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

non-synonymous SNPs TRPS1 gene congenital hypertrichosis SIFT PolyPhen rs181507248 rs146506752 secondary structure tertiary structure physiochemical properties Protein Model Database single nucleotide polymorphisms excessive hair growth protein 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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