Abstract
BLM helicase protein plays important role in DNA replication and maintains the genomic integrity. Variation in BLM helicase gene resulted defect in DNA repair mechanism and are reported to be associated with bloom syndrome (BS) and cancer. Computational analysis of SNPs in BLM helicase gene has been performed to identify, characterize the pathogenic SNPs using bioinformatics approach. SNPs data has been obtained from dbSNP database for human BLM helicase (P54132). There were 1003 SNPs mapped to missense, 19890 SNPs mapped to intron, while 550 SNPs mapped to 5'UTR, 176 SNPs mapped to 3'UTR, 21551 mapped to total SNPs of different variation class and 11 SNPs mapped to pathogenic misense in human BLM helicase gene. 6 nsSNPs of 11 pathogenic missense are found to be deleterious or damaging by all four prediction tools. These 6 nsSNPs rs367543034 of mutation G952V, rs367543023 of mutation H963Y, rs137853153 of mutation C1036F, rs367543029 of mutation C1055Y, rs367543032 of mutation D1064G and rs367543025 of mutation C1066Y can be further investigated along with native protein. These mutations in BLM gene may have potential to be used as an important prognostic marker for detection of cancer, particularly for for surgically-treated lung adenocarcinoma.