OUScholars Oakwood University

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Vanterpool, Elaine

Murangiri, Peris

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of FOXC2 variant implicated in diabetes 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Peris Murangiri 
Oakwood University 
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Recommended Citation 
Vanterpool, Elaine and Murangiri, Peris, "Analysis of FOXC2 variant implicated in diabetes" (2024). Student 
Posters. 24. 
https://ouscholars.oakwood.edu/student-posters/24 
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Analysis of FOXC2 variant implicated in diabetes 
Peris Murangiri and Elaine Vanterpool, PhD 
Oakwood University 
 Department  of Biological Sciences 
Huntsville AL, 35896
Diabetes is a chronic health condition that affects the way individuals’ bodies choose to 
breakdown food. In a healthy individual the body breaks down the food you eat into glucose, 
releasing it into the bloodstream. When the glucose levels become too high, the body then signals 
the pancreas to release insulin, which allows the blood sugar to be used as energy. Now in 
individuals who are suffering from diabetes, their bodies can’t make enough insulin, and as a result 
blood sugar levels rise expeditiously. The purpose of this study is to determine the variants 
implicated in one of the major leading killers in the world, known as diabetes. The variant 
identified to be associated with diabetes was FOXC2. FOXC2, which stands for forkhead box C2, 
is a gene member apart of the forkhead box family. In addition, this gene is also considered a 
transcription factor, giving it control over the activity of other genes. Through analysis of FOXC2, 
13 missense mutations were identified, three of which were studied throughout this study. 
Additional analysis tools, SIFT and PolyPhen-2 were utilized to predict the impacts amino acid 
substitutions have on the function of human proteins. SWISS modeling was used to to get a sense 
of how the protein structure looked three-dimensionally. The three missense mutations identified 
were Leu487Pro, Ala189Glu, and Tyr41Phe. Leu487Pro and Tyr41Phe were predicted to be 
tolerated with a score of 0.97, whereas Ala189Glu was predicted to be tolerated with a score of 
0.007. All these mutations were predicted to have a high chance of affecting protein function, with 
a score of 0.0. Gene expression was predominantly identified in the lymphatic endothelial cell, 
reason being why cancer patients with diabetes are more prone to resistance against 
ABSTRACT
Diabetes is a chronic disease that affects much of the population, being one of the most common killers worldwide. This 
disease occurs when the pancreas can’t produce enough insulin. In other cases, this disease can also occur when the body isn’t 
able to productively use the insulin produced. This can be detrimental to one’s blood glucose level, causing it to rise 
substantially. Once one’s blood glucose level rises too high for the body to maintain, the buildup of glucose in the blood causes 
hyperglycemia, which in turn can be deadly. There are three types of diabetes: type 1, type 2, and gestational diabetes. The 
most common is type 2 diabetes, which is acquired genetically, reason being why individuals with a family history of diabetes 
should watch on what they consume. Individuals with type 2 diabetes make insulin, but the amount of insulin is less than what 
the body is accustomed to. The body produces less insulin due to the body’s acquired resistance to it. Type 1 diabetes is very 
similar to type 2 diabetes, only difference being that the pancreas makes absolutely no insulin. Gestational diabetes is seen 
among pregnant women. Women diagnosed with gestational diabetes can’t produce enough insulin to maintain blood glucose 
levels, but these levels return to normal once they’ve given birth. 
In order to identify courses of action to be taken to prevent this disease, and if not prevent make it manageable, the genes 
associated with this disease should be analyzed. Diseases are interesting in a way that they aren’t caused by one specific gene 
expression, but by the way all the genes choose to work together. If a mutation in one gene causes an overexpression, this can 
affect the expression of another gene, in turn causing a domino effect. Additionally, genes such as , may be associated in a 
disease but may not entirely be the cause, it instead may give rise to other diseases.  
INTRODUCTION
                             Gene Identification                                                           
• FOXC2, which stands for forkhead box C2, is a gene that’s a member of the forkhead box family. In addition, 
this gene is also considered a transcription factor, giving it control over the activity of other genes. 
• Its key role is in the regulation of lymphatic endothelial cell differentiation during embryogenesis. In addition, 
this gene also plays an important role in the formation of smooth muscle layers and morphogenesis of 
lymphatic valves, which still takes place during embryogenesis.  
                               Protein Homology                                                           
  Prediction of Pathogenicity: SIFT and Polyphen-2                                                                       
The three missense mutations identified were Leu487Pro, Ala189Glu, and Tyr41Phe.  
• Leu487Pro missense mutation is uncertain. Polyphen-2 predicts this missense mutation will probably be damaging due to its score of 0.97.  
• SIFT predicts Leu487Pro to be tolerated with a score of 0.00.  
 
• Ala189Glu missense mutation is likely benign. Polyphen-2 predicts this missense mutation will be benign due to its score 0.007.  
• SIFT predicts Ala189Glu to be tolerated with a score of 0.93.  
           
  
•  Tyr41Phe missense mutation is pathogenic. Polyphen-2 predicts this missense mutation will probably be damaging due to its score 0.967.  
• SIFT predicts Tyr41Phe to be tolerated with a score of 0.02.  
 
                               Protein Homology                                                           
The only conserved domain found was the FH domain. This domain is named for the Drosophila 
forkhead protein, which is a transcription factor responsible for promoting terminal development. The 
FH domain is structured containing two flexible “wings” in the C-terminal region. 
RESULTS
• Individuals who suffer from diabetes typically don’t 
have healthy diets. These unhealthy diets increase 
FOXC2 levels, which surprisingly enough counteract 
most of the symptoms associated with obesity. These 
symptoms include hypertriglyceridemia and induced 
insulin resistance. Essentially stating that increased 
FOXC2 levels improve the chances of protection 
against type 2 diabetes.  
• FOXC2 is an emerging oncogene linked to cancer 
progression. Its drug resistance makes it difficult for 
therapies such as chemotherapeutics to succeed. 
Some factors that drive cancer chemoresistance 
include its promotion of epithelial-mesenchymal 
transition, induction of multidrug transporter, 
deregulation of cell survival signaling pathways, and 
activation of oxidative stress response. FOXC2 is 
linked to cancer due to the factors that drive its 
resistance to chemoresistance, making this gene an 
oncogene.  
DISCUSSION AND 
CONCLUSION
EW;, Hargadon KM;Strong. “The FOXC2 Transcription Factor: A Master Regulator of Chemoresistance in Cancer.” Technology in Cancer Research & 
Treatment, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/36740986/.  
“Home - Protein - NCBI.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/protein/. 
Jiang L;Ren W;Xie C;Duan S;Dai C;Wei Y;Luo D;Wang T;Gong B;Liu X;Yang Z;Ye Z;Chen H;Shi Y; “Genetic Landscape of FOXC2 Mutations in 
Lymphedema-Distichiasis Syndrome: Different Mechanism of Pathogenicity for Mutations in Different Domains.” Experimental Eye Research, U.S. 
National Library of Medicine, pubmed.ncbi.nlm.nih.gov/35716761/.   
“Model Interactive Workspace.” SWISS, swissmodel.expasy.org/interactive. Accessed 2 Apr. 2024.  
“Polyphen-2 Prediction of Functional Effects of Human Nssnps.” PolyPhen-2: Prediction of Functional Effects of Human nsSNPs, 
genetics.bwh.harvard.edu/pph2/.  
“Predict Effects of Nonsynonmous / Missense Variants.” SIFT, sift.bii.a-star.edu.sg/. Accessed 2 Apr. 2024.  
“Simple Clinvar.” Simple ClinVar, simple-clinvar.broadinstitute.org/.  
“The Human Protein Atlas.” The Human Protein Atlas, www.proteinatlas.org/.  
Yang J;Liu F;Li Y;Wu D;Zhang Z;Chen S;Deng M;Yang C;Yang J; “Forkhead Box C2 Is Associated with Insulin 
Resistance in Gestational Diabetes Mellitus.” Gynecological Endocrinology : The Official Journal of the 
International Society of Gynecological Endocrinology, U.S. National Library of Medicine, 
pubmed.ncbi.nlm.nih.gov/35532201/.
REFERENCES 
• SWISS modeling was used to get a sense of how the protein structure 
looked three-dimensionally. 
• Simple-Clinvar was used in this study to identify the presence of 
FOXC2 in diabetes. 
• SIFT and Polypehn-2 were used to help predict the impacts amino acid 
substitutions have on the function of human proteins.  
• Polyphen-2 was used to the predict the effect of missense variants 
through amino acid substitution.  
• SIFT was used to predict the affect amino acid substitution has on 
protein function. 
METHODS
This project was supported by the department 
of Biological Sciences along with Dr. Elaine 
Vanterpool. As well as HudsonAlpha Institute 
of Technology
ACKNOWLEDGEMENTS  


English

Analysis of FOXC2 variant implicated in diabetes

https://ouscholars.oakwood.edu/student-posters/1050/thumbnail.jp

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of Arg307Trp of NOD2 in Arthritis’ 
Elaine Vanterpool 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine, "Analysis of Arg307Trp of NOD2 in Arthritis’ " (2024). Student Posters. 32. 
https://ouscholars.oakwood.edu/student-posters/32 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of Arg307Trp of NOD2 in Arthritis’
Jamiah Thomas and Elaine Vanterpool, PhD.
Oakwood University
 Department  of Biological Sciences 
Huntsville AL, 35896
Arthritis is the inflammation of the joints and is known to affect 53.2 
million people in the US. Arthritis can cause symptoms which include pain, 
stiffness, swelling, redness, and decreased range of motion which can 
progress with age. This study's purpose was to identify underlying genes 
which could directly or indirectly affect arthritis symptoms. To investigate 
this topic, 
ABSTRACT
INTRODUCTION
RESULTS DISCUSSION AND 
CONCLUSION
REFERENCES 
METHODS
ACKNOWLEDGEMENTS  
Arthritis is known to affect 53.2 million people in the US. Arthritis is the inflammation 
of the joints but can has been known to morph into different types such as rheumatoid 
arthritis and osteoarthritis. Symptoms include pain, stiffness, swelling, redness, and 
decreased range of motion which can progress with age. NOD2 is a nucleotide binding 
oligomerization domain containing 2 with the ability to detect motifs in bacterial 
peptidoglycan and promote entry through initiating immune responses. Though known 
for its defense mechanism, an improper regulation of the gene can code and the protein 
could lose its detection or inflammatory response. Because of NOD2 is able to spark the 
cascade of inflammatory response, the chance of a NOD mutation could impact this 
cascade of a response and could possibly cause the inflammatory response seen in 
arthritis. NOD2 has presence in the pathogenesis of arthritis which could lead to the 
development of more specific medications needed to alleviate such inflammation in the 
joints. 
- SimpleClinVar was used for initial observation of genes related to 
arthritis leading to investigation of NOD2
- Swiss modeling retrieved the protein homology displaying the 
NOD2 protein, locating where the mutation would take place 
residue 307, and observing the dimensions of the protein 
- Poly-phen is an analytical source which predicted the effect of 
missense mutation 
- SIFT program predicted if an amino acid substitution would 
impact the function of the protein. 
Figure 1. Vertical view 
of the Arginine residue 
307 from the protein 
homology found on the 
alpha helix without 
mutation 
Figure 2. Horizontal view 
of the Arginine residue 
307 from the protein 
homology found on the 
alpha helix without the 
mutation 
Figure 3. The full scope of the NOD2  
displaying the protein shape with 
alpha helical structured proteins 
surround the anti-parallel beta sheet 
center without the mutation
The SIFT results predicted a mutation of the Arg at position 307 being replaced with a 
Trp residue would affect the protein function by meeting the criteria of the range of 
effectiveness falling 0.01. The Poly-phen predicted the damage the mutation could have 
on protein function with the missense mutation. 
Location of Gene Expression  
Figure 4. The primary 
locations of the NOD2 
gene in the body are 
shown in this chart with 
the most common 
being in the bone 
marrow, appendix, 
skin, and esophagus.  
- Arthritis is known as the inflammation of the 
joints caused by a range of inflammatory 
response genes being activated
- NOD2 gene is a protein not commonly 
associated with arthritis but could have a 
pivotal impact on inflammatory response if 
mutated
- The mutation of Arg307Trp was highly 
predicted to impact the function of the 
NOD2
- Arg to Trp would promote varied 
conformational changes due to the 
switching from more linear structure to a 
ringlike structure causing compactness 
within the alpha helical structure location of 
the protein
- NOD2 has association with other disease 
such as Yao Syndrome which symptoms 
display joint inflammation. 
- 64127 - Gene ResultNOD2 nucleotide binding oligomerization domain containing 2 [ (human)]. (2024, 
March 10). NCBI. Retrieved April 3, 2024, from https://www.ncbi.nlm.nih.gov/gene/64127
- Entry - *605956 - NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2. (n.d.). 
OMIM. Retrieved April 3, 2024, from https://www.omim.org/entry/605956
- Maekawa, S., & et al. (n.d.). Crystal structure of NOD2 and its implications in human disease. Nat. 
Commun., 7:11813. doi: 10.1038/ncomms11813 (2016).
- Negroni,, A., & et al. (2018, February 12). NOD2 and inflammation: current insights - PMC. NCBI. 
Retrieved April 3, 2024, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813767/
- NOD2 Gene. (n.d.). GeneCards. Retrieved April 3, 2024, from https://www.genecards.org/cgi-
bin/carddisp.pl?gene=NOD2
- Yao syndrome (Concept Id: C4310620). (n.d.). NCBI. Retrieved April 3, 2024, from 
https://www.ncbi.nlm.nih.gov/medgen/934587
I would like to acknowledge Dr. Elaine Vanterpool, Hudson 
Alpha, and Oakwood University for this opportunity to 
extend my knowledge, understanding, and love for 
research. 


Analysis of Arg307Trp of NOD2 in Arthritis’ ​

https://ouscholars.oakwood.edu/student-posters/1049/thumbnail.jp

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
The analysis of variants R43W and S133C in the GATA4 gene in 
(CHD) congenital heart disease 
Elaine Vanterpool 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine, "The analysis of variants R43W and S133C in the GATA4 gene in (CHD) congenital 
heart disease" (2024). Student Posters. 33. 
https://ouscholars.oakwood.edu/student-posters/33 
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accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
The analysis of variants R43W and S133C in the 
GATA4 gene in (CHD) congenital heart disease
Akayla King, Dr.Elaine Vanterpool
Oakwood University, 
Department of Biological Sciences 
Huntsville AL, 35896
Congenital cardiac defects are the source of the symptoms of heart disease. One of 
the most prevalent diseases in neonates is congenital heart disease. This study aims to 
shed light on genetic determinants which are the underlying cause of congential heart 
disease and their symptoms, particularly to congential heart disease. Human disorders 
have been connected to missense mutation genes and cardiac abnormalities in GATA4. 
In both mice and humans, proper heart development and homeostasis depend on the 
zinc transcription factor GATA4. Simple ClinVar was used to identify GATA4 gene that 
was linked to the congential heart disease. Consequently, this gene has a significant 
detrimental impact on the development of the heart. Computational tools like SIFT and 
Polyphen-2 were used to evaluate the pathogenicity of mutations on the protein. The 
protein's structure was determined through the application of SWISS modeling. GATA4 
is a part of the GATA-N superfamily which is the conserved domain. The N-terminal is 
one of the domain hits of GATA and it’s where transcription starts. GATAN is the 
transcription activator family which is represented by this family. The missense 
mutations under study was Ser133Cys and Arg43Trp. Ser133Cys is 0.1 and Arg43Trp 
is 1.0, meaning that it may be harmful. Ser133Cys has a score of 0.09, replacement at 
pos 133 from S-C is where it’s expected to be tolerated, whereas a value 0.00 for 
Ser133Cys indicates that substitution at position 43 from R to W will have an impact 
on protein function. The expression of this gene is predominantly seen in the heart and 
PolyPhen2 predicts R43W to be damaging.
ABSTRACT
Congential means that you’re born with such condition. Congential heart 
diesease (CHD) is one of the causes of childhood diesases and mortality is 
mainly triggered by environmental and genetic factors. Congential heart 
disease in adults and children can change the way blood flows through the 
heart. There are different types of congential heart defects. It’s an 
abnormality in the heart that can develop before birth. Congential heart 
defect is one of the most common types of birth defects. The symptoms 
that may occur is abnormal heart rhythms, shortness of breath, failure to 
feed or develop normally, and swollen body tissue or organs. In addition to 
the heart, GATA4 plays important role in the reproductive system. GATA4 
is a present in many genes and regulates genes involved in embyrogensis
and myocardial differentiation. GATA-4 interacts with many members of 
the splicesome complex in human induced pluripotent stem cell-derived
progenitors. In this study it results in the embryonic stem cells to become
damaging. Congential disease is passed down through birth 1% of the 
time. In this study congential heart diease is causing abnormality in the 
genetic determinants. 
INTRODUCTION
Figure (2b)Arg43Trp variant which is damaging with of a score of 1.000. 
• GATA4 binding protein 4 gene is on chromosome 8 and encodes for various genes known has zinc 
transcriptional factor that has a critical role in cardiac hypertrophy, heart failure. 
• GATA4 binding protein 4 is present in the GATA-N region. This protein is to regulate genes involved
in embryogensis and in myocardial differentiation. 
• The mutationArg43Trp and Ser133Cys is a missense mutation in GATA4 which is causing 
pathogenesis in transcription for DNA to properly bind to GATA4 protein. 
• Congential heart disease (CHD) is very rarely seen in 1% of live births. 
• Arg43Trp and Ser133Cys variants of the GATA4 is expressed highly in the ovaries. 
• Defects in alternative splicing are associated with many cardiac septal defects yet relatively little is 
known about the cell type or alternative splicing is achieved in the heart. 
• Mutations in this gene have been associated with ventricular septal defects (VSD) which is a common
form of congential heart diesase. 
• These findings will impact the medical community by increasing an understanding of the connection
between the relationship of GATA4 being produced in the reproductive system which would cause the 
abnormality of the gene determinants among possibly infants that expressed the GATA4 gene. 
DISCUSSION AND CONCLUSION
B;, Z. Y. F. J. (n.d.). Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis. Medicine. https://pubmed.ncbi.nlm.nih.gov/28471988/
Gonzalez-Teran B;Pittman M;Felix F;Thomas R;Richmond-Buccola D;Hüttenhain R;Choudhary K;Moroni E;Costa MW;Huang Y;Padmanabhan A;Alexanian M;Lee CY;Maven BEJ;Samse-Knapp K;Morton 
SU;McGregor M;Gifford CA;Seidman JG;Seidman CE;Gelb BD;Colombo G;Conklin BR;B. (n.d.). Transcription factor protein interactomes reveal genetic determinants in heart disease. Cell. 
https://pubmed.ncbi.nlm.nih.gov/35182466/
Mayo Foundation for Medical Education and Research. (2023, April 21). Congenital heart disease in adults. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-
disease/symptoms-causes/syc-20355456
CDD conserved protein domain family: Znf_gata (no date) National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=238123 (Accessed: 01 April 
2024).
GATA4 gata binding protein 4 [homo sapiens (human)] - gene - NCBI (no date) National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&list_uids=2626 
(Accessed: 03 April 2024).
REFERENCES 
• Simple-Clinvar was used in this 
study to observe GATA4 gene in 
congential heart disease.
• Swiss Modeling was used to obtain 
the 3-D model of GATA. 
• PolyPhen-2 was used to predict the 
serio of the gene variations 
associated with GATA4.
• SIFT programming which takes the 
sequence to predict whether an 
amino acid substitution will affect 
the protein function. 
METHODS
This program was supported by Hudson and Alpha Institute for Biotechnology, Biological Science Department at Oakwood Univeristy
and a very special thanks to Elaine Vanterpool, PhD. 
ACKNOWLEDGEMENTS  
SIFT
Poly-Phen
Swiss Modeling
Conserved Domains
Figure (4): 3D structures of GATA4 
Figure (1b) Arg43Trp variant
affecting GATA4 with a score
of 0.00 
Figure (1a) Ser133Cys
variant affecting GATA4 with 
a score of 0.09. 
Figure (2a) Ser133Cys variant which is damaging
0.6. 
Figure (3a) GATA4 being apart of the GATA-N superfamily. GATA-N is one of the domain sites at intervals 1-205, ZnF_GATA at 
intervals 217-267. GATA-N is where transcription activates at N-terminal. Figure (3b) the Zinc finger DNA binding domain binds specially to 
DNA consensus sequence [AT] GATA[AG] 
RESULTS
Figure(3c): graph of 
GATA4 encoding in 
different tissues


The analysis of variants R43W and S133C in the GATA4 gene in (CHD) congenital heart disease​

https://ouscholars.oakwood.edu/student-posters/1051/thumbnail.jp

Martin, Janett

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Exploring the Role of CAV1 Gene in the Manifestation of Diabetes 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Janett Martin 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Martin, Janett, "Exploring the Role of CAV1 Gene in the Manifestation of Diabetes" 
(2024). Student Posters. 47. 
https://ouscholars.oakwood.edu/student-posters/47 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Exploring the Role of CAV1 Gene in the Manifestation of Diabetes
Janett Martin and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Diabetes is a chronic disease that occurs when the pancreas does not 
produce enough insulin or when the insulin cannot be effectively 
processed. In 2019 diabetes was the direct cause of 1.5 million deaths 
with 40% of these deaths occurring before the age of 70. Better 
understanding of diabetes can help control and treat this disease to 
reduce risk factors and complications therefore reducing its morbidity 
and mortality. Using Clinvar the CAV1 gene and its few known 
mutations were associated with diabetes. Further researching this gene 
and its known mutations using PolyPhen and SIFT, its mutations were 
able to be identified as uncertain, tolerable, or an affecting mutation. 
Looking into CAV1’s mutation at position 18 from I to M is predicted to 
affect protein function with a score of 0.01. However, this may have 
been predicted because of a lack of diverse sequences. With its 
mutations at position 15 and 110 predicted to be tolerated with a score 
of 0.58 and 1.00, respectively. Investigation of CAV1 demonstrated a 
lack of information on its effects on protein function. These finds could 
lead to further investigation of this gene and the role it has in the 
manifestation of diabetes. 
ABSTRACT
Diabetes is a disease that can cause other health concerns over 
time, such as: vision loss, heart disease, and kidney disease. 
Diabetes was a direct cause of 1.5 million deaths with 600,000 of 
these deaths occurring before the age of 70. Highlighting its need 
to look towards the cause of this disease affecting 38.4 million 
Americans. Researchers have found that a disruption in CAV1 
results in insulin resistance. Patients with a homozygous mutation 
of the CAV1 gene have postprandial hyperinsulinemia, severe 
insulin resistance, hypertriglyceridemia, and lipodystrophy. 
However, not enough research has been conducted in regard to 
its relationship with the disease, only its effects.  
INTRODUCTION
RESULTS
This research has shown us that the 
missense mutation found in position 15 from 
Thr to Ala has presented itself as benign, 
being tolerable and having no diverse effect. 
Missense mutation at position 110 from Pro 
to Leu was also found to be benign, tolerable 
with no known diverse effects. 
Furthermore, missense mutation at position 
18 from Ile to Met was found to be possibly 
damaging. Deeper analysis of this predicted 
it to affect protein function, however, this 
could be a result of the sequences used not 
being diverse enough. This introduces a gap 
in the research, inviting further research on 
the CAV1 gene and its mutations. 
DISCUSSION AND 
CONCLUSION
“Diabetes.” World Health Organization, World Health Organization, 
www.who.int/news-room/fact-
sheets/detail/diabetes#:~:text=Over%20time%2C%20diabetes%20can%20dama
ge,blood%20vessels%20in%20the%20eyes. Accessed 3 Apr. 2024. 
Haddad, Dania, et al. “Role of Caveolin-1 in Diabetes and Its Complications.” 
Oxidative Medicine and Cellular Longevity, U.S. National Library of Medicine, 27 
Jan. 2020, 
www.ncbi.nlm.nih.gov/pmc/articles/PMC7007939/#:~:text=Role%20of%20Caveoli
n%2D1%20in%20Insulin%20Resistance,%2C%20and%20lipodystrophy%20%5B
51%5D. 
Nazar, Chaudhary Muhammad Junaid, et al. “Effectiveness of Diabetes Education 
and Awareness of Diabetes Mellitus in Combating Diabetes in the United Kigdom; 
a Literature Review.” Journal of Nephropharmacology, U.S. National Library of 
Medicine, 9 Sept. 2015, 
www.ncbi.nlm.nih.gov/pmc/articles/PMC5297564/#:~:text=in%20last%20decade.-
,Better%20diabetic%20education%20and%20knowledge%20to%20control%20an
d%20treat%20diabetes,morbidity%20and%20mortality%20in%20diabetics. 
“Statistics about Diabetes.” Statistics About Diabetes | ADA, diabetes.org/about-
diabetes/statistics/about-
diabetes#:~:text=Prevalence%3A%20In%202021%2C%2038.4%20million,of%20t
he%20population%2C%20had%20diabetes.&text=Diagnosed%20and%20undiag
nosed%3A%20Of%20the,and%208.7%20million%20were%20undiagnosed. 
Accessed 3 Apr. 2024. 
REFERENCES 
Simple-Clinvar was used during this process to observe 
the presence of RAD54B in Lymphoma. 
Poly-Phen2 was used to predict the effect of the possible 
variants through the analysis of the modeling methods 
provided. 
SIFT programing was used to take the sequence 
homology to predict if the amino acid substitution would 
affect the protein function. 
METHODS
I would like to acknowledge and thank Hudson Alpha 
Institute for Biotechnology and Dr. Vanterpool for this 
opportunity.  
ACKNOWLEDGEMENTS  
In Figure 1.1 we find a missense mutation at position 15 from Thr to Ala with a conflicting/uncertain clinical 
significance. Figure 1.2 shows us that this mutation is benign with a score of 0.011. 
Fig 1.1 Fig 1.2
Fig 2.1 Fig 2.2
In Figure 2.1 we find a missense mutation at position 110 from Pro to Leu with a conflicting/uncertain 
clinical significance. Figure 2.2 shows us that this mutation is benign with a score of 0.043. 
Fig 3.1 Fig 3.2
In Figure 3.1 we find a missense mutation at position 18 from Ile to Met with a conflicting/uncertain clinical 
significance. Figure 2.2 shows us that this mutation is possibly damaging with a score of 0.787. Figure 3.3 
Shows us that this may be the result of the sequences not being diverse enough. 
Fig 3.3


Exploring the Role of CAV1 Gene in the Manifestation of Diabetes​

https://ouscholars.oakwood.edu/student-posters/1015/thumbnail.jp

Calderon-Ruiz, Luis

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis AR The androgen (Prostate Cancer) 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Luis Calderon-Ruiz 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Calderon-Ruiz, Luis, "Analysis AR The androgen (Prostate Cancer)" (2024). Student 
Posters. 19. 
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Analysis AR The androgen (Prostate Cancer)
Luis Kendy Calderon and Elaine Vanterpool, PhD
Oakwood University
Department  of Biological Sciences 
Huntsville AL, 35896
Prostate cancer is one of the most common cancers in American men. This slow-growing, 
fatal disease is commonly diagnosed in men over 50 years of age. Age is the most common 
risk factor for prostate cancer. Other contributing factors are family history, race, and 
environment. Prostate cancer is known to affect the prostate gland and cause it to enlarge. 
Enlargement of the gland often affects urinary and sexual function. This study aimed to 
identify genes associated with prostate cancer and analyze missense mutations associated 
with prostate cancer. Simple ClinVar was the method used to identify genetic variants 
associated with prostate cancer, through which According to sift and poly-Phen2, mutations 
found to be pathogenic or benign were identified as Harmful androgen receptors (Damaging) 
(AR). Inherited variants in particular genes, such as BRCA1, BRCA2, and HOXB13, 
explain some cases of hereditary prostate cancer, In the other hand if inherited variants genes 
of BRCA1, BRCA2, and HOXB13 are present these can lead to hereditary prostate cancer. 
Men with variants in these genes are at high risk of developing prostate cancer and, in some 
cases, other cancers during their lifetime. Additionally, men with BRCA2 or HOXB13 gene 
variants may be at increased risk of developing life-threatening forms of prostate cancer., 
understanding the impact of prostate cancer has a multifaceted role in the medical 
community, driving research, innovation, and advances in diagnosis, treatment, and 
supportive care. A comprehensive understanding of this condition is essential to improve 
patient outcomes and quality of life.
ABSTRACT
Prostate cancer stands as one of the most prevalent malignancies affecting men globally, 
with a significant impact on public health, particularly in Western countries such as the 
United States. Its  characterized by the abnormal growth of cells in the prostate gland, a 
vital organ involved in male reproductive function. While prostate cancer typically 
progresses slowly, it can be fatal if left untreated, making early detection and 
intervention crucial for optimal outcomes.
Age serves as the primary risk factor for prostate cancer, with the disease commonly 
diagnosed in men over the age of 50. However, other factors such as family history, 
race, and environmental influences also contribute to disease susceptibility. Despite 
advances in screening and treatment modalities, the exact etiology of prostate cancer 
remains incompletely understood, necessitating ongoing research efforts to unravel its 
complexities.
By gaining a deeper understanding of the multifaceted nature of prostate cancer, 
healthcare professionals can better tailor interventions to individual patient needs, 
ultimately improving clinical outcomes and enhancing the overall quality of life for 
those affected by this disease.
INTRODUCTION
RESULTS
Prostate cancer remains a significant health concern for American 
men, characterized by its prevalence, slow progression, and potential 
fatality. Age, family history, race, and environmental factors are key 
contributors to its development, with urinary and sexual dysfunction 
often accompanying prostate gland enlargement.
Understanding the multifaceted impact of prostate cancer is crucial 
within the medical community, driving ongoing research, innovation, 
and advancements in diagnosis, treatment, and supportive care. A 
comprehensive understanding of this condition is essential for 
improving patient outcomes and enhancing quality of life. Moving 
forward, continued efforts to unravel the complexities of prostate 
cancer genetics and biology will be vital in developing personalized 
approaches to prevention, diagnosis, and treatment, ultimately striving 
towards better outcomes and improved quality of life for affected 
individuals.
DISCUSSION AND 
CONCLUSION
Prostate Cancer https://www.mayoclinic.org/diseases-conditions/prostate-
cancer/symptoms-causes/syc-20353087 Foundation for Medical Education and 
Research, 14 Dec.2022
Prostate Cancer https://www.ncbi.nlm.nih.gov/books/NBK470550/
Prostate Cancer 
https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid
Prostate cancer https://www.health.harvard.edu/a_to_z/prostate-cancer-a-to-z 
Harvard University 13 Dec.2022
Prostate Cancer https://lluh.org/conditions/prostate-cancer
Loma Linda University Health
Antonarakis ES, Armstrong AJ, Dehm SM, Luo J. Androgen receptor variant-
driven prostate cancer: clinical implications and therapeutic targeting. Prostate 
Cancer Prostatic Dis. 2016;19:231–241. [PMC free article] [PubMed]
REFERENCES 
Simple ClinVar was the method used to identify genetic variants associated 
with prostate cancer.
Polyphen-2 was used to predict the functional impact of genetic mutations
SIFT predicts the functional impact of genetic mutations in proteins.
METHODS
ACKNOWLEDGEMENTS  
Protein homology
Predication of pathogenicity:Poly-phen2 and SIFT
This mutation is predicted to be POSSIBLY DAMAGING with a score 
of 0.900 (sensitivity: 0.70; specificity: 0.90
This mutation is predicted to be PROBABLY DAMAGING with a score 
of 0.997 (sensitivity: 0.41; specificity: 0.98)
•Poly-Phen2 predicts the mutation to be possibly damaging with a score of 0.90
•Poly-Phen2 predicts the mutation to be probably damaging with a score of 0.98.
AR867mutated protein 
More about AR 867
The figure above shows us the known phenotypes that are associated with AR 867 gene


Analysis AR The androgen (Prostate Cancer)​

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Duany, Emilee

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of RYR1 Variants in Malignant Hypothermia 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Emilee Duany 
Oakwood University 
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Recommended Citation 
Vanterpool, Elaine and Duany, Emilee, "Analysis of RYR1 Variants in Malignant Hypothermia" (2024). 
Student Posters. 36. 
https://ouscholars.oakwood.edu/student-posters/36 
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Analysis of RYR1 Variants in Malignant 
Hypothermia
Emilee Duany and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Malignant Hypothermia is a disease that causes a potentially fatal 
hypermetabolic reaction of the skeletal muscle. It results in a rapid 
increase in body temperature and severe muscle contractions when 
someone receives general anesthesia. Malignant hypothermia is a 
rare autosomal dominant disorder that affects 1 patient per 5,000 to 
100,000 patients. This study utilized Simple ClinVar, UniProt, 
PolyPhen2, SIFT, and Swiss Model to conduct an analysis and 
identification of mutations. Simple Clin Var identified the gene RYR1 
as associated with malignant hypothermia. The RYR1 gene encodes 
the major sarcoplasmic reticulum calcium release channel of the 
skeletal muscle, providing the information needed to make the 
ryanodine receptor 1 protein. PolyPhen2 and SIFT were employed to 
predict RYR1 variants lle2435Thr, Thr2206Met, and Arg614Cys as 
likely pathogenic and damaging to the protein. Based on the analysis 
using Simple ClinVar, UniProt, Polyphen2, SIFT, and Swiss Model, it 
is believed that mutations in the RYR1 gene, particularly variants 
lle2435 Thr, Thr2206Met, ano Arg614Cys, result in decreased 
calcium channel function, leading to the manifestation of malignant 
hypothermia during general anesthesia. Calcium channels are 
structural components that provide a mechanism to modulate the 
force of contraction. These mutations damage the RYR1 gene which 
can impact calcium channels leading to malignant hypothermia. 
These findings could impact the medical community in explaining 
how the RYR1 variants can cause malignant hypothermia due to 
their pathogenic significance.
ABSTRACT
Malignant hyperthermia is a life-threatening reaction to certain
anesthesia drugs, causing rapid body temperature increase
and muscle rigidity. It's triggered by genetic mutations, notably
in the RYR1 gene. Prompt treatment is vital to prevent serious
complications, including organ damage or death. The RYR1
gene encodes the major sarcoplasmic reticulum calcium
release channel of the skeletal muscle. It provides the
information needed to make the ryanodine receptor 1 protein.
An RYR1 variant mutation encodes for Thr2206Met which
turns threonine to methionine at position 2206.The mutation of
threonine to methionine within the ryanodine receptor type 1
(RYR1) gene can lead to malignant hyperthermia, a life-
threatening condition triggered by anesthesia. Threonine
normally stabilizes the calcium release channel in RYR1, but
its substitution with methionine disrupts channel function,
causing uncontrolled calcium release in muscle cells.
Additionally, glycine, produced through threonine metabolism,
inhibits muscle contractions, while L-methionine opens
calcium channels, potentially exacerbating calcium
dysregulation in malignant hypothermia. Methionine, a
nonpolar amino acid, may disrupt the normal interactions and
conformational changes required for proper calcium channel
function within RYR1. As a result, the mutated RYR1 channel
becomes hypersensitive to triggering agents such as volatile
anesthetics and depolarizing muscle relaxants, leading to
uncontrolled calcium release, muscle rigidity,
hypermetabolism, and hyperthermia characteristic of
malignant hypothermia. The RYR1 gene is also seen in
Congenital Myopathy. This disease is characterized by muscle
weakness and hypotonia soon after birth or in early childhood.
INTRODUCTION
RESULTS
DISCUSSION AND CONCLUSION
Database, G. C. H. G. (n.d.). RYR1. GeneCards is a searchable, integrative database that provides comprehensive, user-friendly 
information on all annotated and predicted human genes. Retrieved March 10, 2024, from https://www.genecards.org/cgi-
bin/carddisp.pl?gene=RYR1
Ducamp, S., &amp; Fleming, M. D. (2019, January 3). The molecular genetics of Malignant Hypothermia. Retrieved March 10, 2024, from 
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318428/ 
Entry - #617021 - hydrops, lactic acidosis, and sideroblastic ... - omim. (n.d.). Retrieved March 11, 2024, from 
https://www.omim.org/entry/617021
REFERENCES 
The tools that were used to conduct the analysis of the RYR1 
gene were:
• Simple ClinVar
• PolyPhen2
• SIFT
• Swiss model prot.
Simple ClinVar was used to identify the RYR1 gene in malignant 
hypothermia. PolyPhen2 and SIFT was used to determine the 
pathogenicity of the different RYR1 mutations. Swiss model prot 
was used to construct a 3-D image of the RYR1 gene. All of 
these tools were used to gain knowledge on the RYR1 
mutations to be able to conduct a full analysis of its affect on 
sideroblastic anemia. Databases like NIH and GeneCards were 
used to gain a full understanding of RYR1.
I'd like to express my heartfelt appreciation to Dr. Elaine Vanterpool for her time and efforts throughout the 
year. Your helpful advice and suggestions were extremely beneficial to me during the project's completion. In 
this aspect, I am eternally grateful to you.
ACKNOWLEDGEMENTS  
Ile2435Thr Thr2206Met Arg614Cys
SIFT 0.06 0.00 0.00
Polyphen 0.997 1 1
Simple ClinVar Pathogenic Likely Pathogenic Likely Pathogenic
METHODS


Analysis of RYR1 Variants in Malignant Hypothermia

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Daphnis, Sukari

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of IL11RA IN Association with Craniosynostosis 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Sukari Daphnis 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Daphnis, Sukari, "Analysis of IL11RA IN Association with Craniosynostosis" (2024). 
Student Posters. 37. 
https://ouscholars.oakwood.edu/student-posters/37 
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Oakwood University - Wikipedia
Analysis of IL11RA IN Association with Craniosynostosis
Sukari Daphnis and Elaine Vanterpool, PhD
Oakwood University 
Department of Biological Science 
Huntsville AL, 35896
Craniosynostosis is a condition in which calvaria 
sutures closes too early, either after birth or during 
development. The improper closure of the sutures will 
cause result in skull abnormalities and delayed brain 
development. The IL11RA is a mutation that is found 
in stomal cell-derived cytokine. IL11RA is a stromal 
cell-derived cytokine that belongs to a family of 
pleiotropic and redundant cytokines that use the 
gp130 transducing subunit in their high-affinity 
receptors. This particular receptor is similar to ciliary 
neurotrophic factor, due to both containing an 
extracellular region. The region has a 2-domain 
structure composed of an immunoglobulin-like 
domain and a cytokine receptor-like domain. A 
missense mutation in IL11RA has been linked to 
craniosynostosis. This study's purpose is to 
identify the effects of the IL11RA gene and missense 
variants. Simple ClinVar analysis was used to 
identify variants associated with this disease. 
Computational analysis tools, such as SIFT and 
PolyPhen2, were used to predict the effects of the 
Arg296Trp mutation. It was concluded that the 
Arg296Trp mutation is damaging and will impact 
protein function. The objective of this research is to 
furnish the medical community with additional 
insights, thereby advancing the quest for further 
breakthroughs in treatments. 
ABSTRACT
INTRODUCTION
Craniosynostosis is a disorder in which fibrous joints 
go between the bones of a baby’s skull and close 
prematurely. For example, babies skull are like puzzle 
pieces, the puzzle pieces are made up of several 
bones. When babies are born they have borders 
called cranial sutures that are not firmly connected 
yet. Which leads the skull to expand as the babies are 
growing. However, when one of the sutures closes too 
soon, this can cause many issues. If it’s not treated, 
the increased intracranial pressure can lead to 
developmental problems, headaches, brain damage, 
or blindness. Researches have found many genes that 
are mutated linked to craniosynostosis.  
METHODS
• Simple-Clinvar was used in this study to find 
gene mutations IL11RA in the presence of 
craniosynostosis 
• Swiss modeling was used to obtain automated 
protein homology 
• Modeling of protein methods was used in this 
study to find amino acid substitution that will 
affect protein function 
• SIFT programming was used to select the 
variants that affect protein function.  
RESULTS
Protein Mapping Simple Clinvar
Polyphen 2
• When researching the gene mutation I found out that 
the gene IL11RA is connected to having skull 
abnormalities. A research group studied 18 patients 
with skull conditions and found that 73% of the cases 
were genes linked to the condition such as 1L11RA. 
By using genetic sequencing, researchers were able 
to effectively connect between the mutations IL11RA 
and skull conditions.
• According to Polyphen 2 and SIFT, the variants 
Arg296Trp, and Pro221Arg found in the gene 
IL11RA predict that the missense mutations are 
probably damaging and affect protein function. 
• Craniosynostosis is very important to study because 
in many cases a mutation change in certain genes can 
lead to the child developing craniosynostosis. This 
can lead to long-term complications. With further 
research, we can be able to identify more genes that 
may have an impact on genetics.     
Discussion and Conclusion
SWISS Pro Modeling  Conserved Domain
Gene Expression
References
• Mayo Foundation for Medical Education and Research. 
(2022, September 15). Craniosynostosis. Mayo Clinic. 
https://www.mayoclinic.org/diseases-
conditions/craniosynostosis/symptoms-causes/syc-
20354513 
• Centers for Disease Control and Prevention. (2023, 
June 28). Facts about craniosynostosis. Centers for 
Disease Control and Prevention. 
https://www.cdc.gov/ncbddd/birthdefects/craniosyno
stosis.html#:~:text=What%20is%20Craniosynostosis
%3F-
,Craniosynostosis%20is%20a%20birth%20defect%20i
n%20which%20the%20bones%20in,flexible%20mater
ial%20and%20called%20sutures. 
• Craniosynostosis. Johns Hopkins Medicine. (n.d.). 
https://www.hopkinsmedicine.org/health/conditions-
and-diseases/craniosynostosis 
Acknowledgment
This project was supported by 
Oakwood’s undergraduate research 
program. Special thanks to Dr. 
Vanterpool, PhD 


Analysis of IL11RA IN Association with Craniosynostosis​

https://ouscholars.oakwood.edu/student-posters/1053/thumbnail.jp

Seal, Mayah

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
The Correlation Between Mutations of PMS2 and Ovarian Cancer 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Mayah Seal 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Seal, Mayah, "The Correlation Between Mutations of PMS2 and Ovarian Cancer" 
(2024). Student Posters. 49. 
https://ouscholars.oakwood.edu/student-posters/49 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
The Correlation Between Mutations of PMS2 and 
Ovarian Cancer
Mayah Seal and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Ovarian Cancer is the fourth common cause of female cancer death in the developed 
world. Common symptoms include abnormal vaginal discharge, bloating or swollen 
feeling in the stomach, and discomfort or pain in the pelvic area, abdomen, or lower 
back. Studies show that 60 % of people diagnosed with Ovarian Cancer live at least 3 
years after diagnosis. In order to manage ovarian cancer, patients must undergo surgery, 
chemotherapy, imaging, histopathology, and palliation. Studies show that there is a 
potential genetic correlation in patients developing ovarian caners. The purpose of this 
study is to research the impact that mutations of the PMS2 gene has on the development 
of Ovarian Cancer. Analysis tools used include Simple ClinVar, protein mapping, 
PolyPhen, SiFT Predictions, and SWISS Models. Missense Mutations of gene PMS2 
include 1 pathogenic and 1 benign.  By using PolyPhen and SiFT predictions, we found 
that a mutation in position 1 Methionine to Arginine was likely pathogenic. We, also, 
found that in the position 1 mutation from Methionine  to Leucine is benign.  The PMS2 
gene codes for a protein that plays a prominent role in DNA repair. This protein is 
involved in mismatch repair to correct errors that are made during replication in 
preparation for cell division. Humans have both a maternal and paternal PMS2 gene. 
PMS2 is known to have latent endonuclease activity that is dependent on the integrity of 
the meta-binding motif in MutL homologs. This research will significantly impact the 
medical community. Potential target of gene therapy could improve the quality of life in 
patients with Cystic Fibrosis.
 
ABSTRACT
INTRODUCTION
RESULTS
• According to PolyPhen the mutation of Methionine to Leucine in position 1 is likely benign. Regarding that 
same mutation, the SiFT Prediction, also, stated that the mutation is predicted to be “tolerated”. 
• According to PolyPhen, the mutation of Valine to Isoleucine in position 573 is likely damaging. When dealing 
with the same mutation, the SiFT Prediction stated that the mutation is said to effect protein function. 
• This research will significantly impact the medical community. Potential target of gene therapy could improve 
the quality of life in patients with Ovarian Cancer.
DISCUSSION AND CONCLUSION
1. Jayson, G. C., Kohn, E. C., Kitchener, H. C., & Ledermann, J. A. (2014). Ovarian cancer. The Lancet, 384(9951), 1376-1388.
2. Olson, S. H., Mignone, L., Nakraseive, C., Caputo, T. A., Barakat, R. R., & Harlap, S. (2001). Symptoms of ovarian cancer. Obstetrics & Gynecology, 98(2), 212-217.
3. Clendenning, M., Hampel, H., LaJeunesse, J., Lindblom, A., Lockman, J., Nilbert, M., ... & De La Chapelle, A. (2006). Long‐range PCR facilitates the identification of 
PMS2‐specific mutations. Human mutation, 27(5), 490-495.
4. Ten Broeke, S. W., van der Klift, H. M., Tops, C. M., Aretz, S., Bernstein, I., Buchanan, D. D., ... & Win, A. K. (2018). Cancer risks for PMS2-associated Lynch 
syndrome. Journal of Clinical Oncology, 36(29), 2961.
REFERENCES 
METHODS
I would like to acknowledge Dr. Elaine Vanterpool of the Oakwood University Biology Department for serving as my 
advisor on this project and I would like to thank Hudson Alpha for providing the CODE software for this research 
project. 
ACKNOWLEDGEMENTS  
Swiss Model Conserved Domains Gene Expression
Critical Problem & Hypothesis
Purpose:
The purpose of the study is to research the correlation between the PMS2 gene and 
Ovarian Cancer. This is important because the research found can lead to greatly 
improving the quality of life for individuals with Ovarian Cancer. 
Hypothesis:
A mutation in the PMS2 gene will have a correlation with Ovarian Cancer. 
Simple ClinVar
Protein Mapping
SiFT Prediction
SWISS Model
PolyPhen
Expression
Simple ClinVar was used to identify the PMS2 
gene
Protein Mapping was used to show the mapping 
and annotation for PMS2.
Analysis of gene expression provided a clear 
picture of what areas of the body are affected 
by the PMS2 gene.
SWISS modeling was used to create a three-
dimensional model of protein.
SiFT Predictions were used to analyze whether 
amino acid substitutions would have an effect 
on protein function. 
PolyPhen was used to predict the effects that 
various mutations would have on the PMS2 
gene and its expression. 
PolyPhen
SiFT Prediction Protein Mapping
This figure shows that a mutation from Methionine to Leucine in position 
1 is benign.
This figure shows that a mutation from Methionine to Arginine in position 
1 is probably damaging
This figure shows various mutations that can occur on the PMS2 
gene.
This figure shows Sift Predictions : 
• Shift from Methionine to Leucine at position 1 is “tolerated”
• Shift from Methionine to Arginine at position 1 is probably damaging
This figure shows where the PMS2 
gene is expressed in the human 
body. 
This figure shows where the 
conserved domains of the  PMS2  
gene.
This figure is a protein mapping 
prediction. 
Ovarian Cancer is condition in which abnormal cells in the ovary begin to uncontrollably 
grow and divide. Eventually this abnormal growth turns into tumor. If this tumor is not 
caught early, the growth has the capability to spread to surrounding tissues. Symptoms of 
Ovarian Cancer include abnormal vaginal discharge, bloating to swollen feeling in the 
stomach, feeling full very soon after starting toe eat, new urinary frequency, new 
constipation or other bowel changes, fatigue, and discomfort or pain in the pelvic area, 
abdomen, or lower back. The PMS2 gene is responsible for providing instructions for a 
protein that is essential for DNA damage repair.  Bioinformatic database searches were 
conducted regarding the expression of the PMS2 gene that is found in patients with 
Ovarian Cancer. When doing further research, it is important to note that that thePMS2 
gene has prognostic significance in biological roles in Hereditary nonpolyposis 
colorectal cancer. Studies show that in women, there is a correlation between a mutation 
in the PMS2 gene and an increased chance of developing uterine cancer and ovarian 
cancer. 


The Correlation Between Mutations of PMS2 and Ovarian Cancer​

Leading up to the first day of classes in November 1896 were grueling months of preparation: cutting through masses of underbrush, trimming trees, attempting to enlive long-neglected clay land red as blood and hard as rocks, and repairing a decaying Old Mansion house with its row of slave cabins almost dropping to pieces. Stood this impressive building known as  Old Mansion,  former residence of the slave plantation owner. Used as living quarters for Oakwood\u27s staff of four and for the first eight female students, lent elegance and beauty to the early campus.https://ouscholars.oakwood.edu/birth-of-oakwood-1896-gallery/1004/thumbnail.jp

Stovall, Barbara G.

The Old Mansion

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Analysis of FOXC2 variant implicated in diabetes

Analysis of Arg307Trp of NOD2 in Arthritis’

The analysis of variants R43W and S133C in the GATA4 gene in (CHD) congenital heart disease

Exploring the Role of CAV1 Gene in the Manifestation of Diabetes

Analysis AR The androgen (Prostate Cancer)

Analysis of RYR1 Variants in Malignant Hypothermia

Analysis of IL11RA IN Association with Craniosynostosis

The Correlation Between Mutations of PMS2 and Ovarian Cancer

The Old Mansion

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