In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function

Abstract Hennekam Lymphangiectasia–Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a few genes including ADAMTS3. It is characterized by lymphatic dysplasia, intestinal lymphangiectasia, severe lymphedema and distinctive facial appearance. Up till now, no extensive...

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Bibliographic Details
Main Authors: Khyber Shinwari, Yurong Wu, Hafiz Muzzammel Rehman, Ningkun Xiao, Mikhail Bolkov, Irina Tuzankina, Valery Chereshnev
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Bioinformatics
Subjects:
Primary immunodeficiency
Hennekam syndrome
In-silico
ADAMTS3
Nonsynonymous SNP
Online Access:https://doi.org/10.1186/s12859-023-05361-6

Internet

https://doi.org/10.1186/s12859-023-05361-6

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