Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis.

ABSTRACT: Hairs are complex structures, making a protective layer and serves different biological functions. TRPS1, a transcription factor is one of the candidate genes causing congenital hypertrichosis, an excessive hair growth at inappropriate body parts. SNPs of TRPS1 were retrieved from dbSNP which were screened by SIFT and PolyPhen servers based on their functional impacts. Out of the screened SNPs, rs181507248 and rs146506752 were predicted as intolerant and damaging by both the servers. The predicted tertiary structure of the native TRPS1 after refinement and validation was successfully submitted to the Protein Model Database and was assigned with PMDB ID PM0077843, as it was previously unpredicted. It was observed through the structure based analysis that, the SNPs rs181507248 and rs14650675

SUBMITTER: Waheed R 

PROVIDER: S-EPMC3338975 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature