Sequence And Structure Based Assessment Of Non-Synonymous SNPs In Hypertrichosis Universalis

    April 2012 in “ Bioinformation ”
    Rabiya Waheed, Mohammad Haroon Khan, Raisa Bano, Hamid Rashid
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    TLDR Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
    The study investigated the role of non-synonymous SNPs in the TRPS1 gene, which is linked to congenital hypertrichosis, a condition of excessive hair growth. Using SIFT and PolyPhen servers, SNPs rs181507248 and rs146506752 were identified as damaging. Structural analysis revealed that these SNPs significantly altered the secondary and tertiary structures and physiochemical properties of the TRPS1 protein, affecting its interactions and leading to the condition. The refined structure of TRPS1 was submitted to the Protein Model Database with ID PM0077843.
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