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NM_032496.3(ARHGAP9):c.1108T>G (p.Ser370Ala) AND Coronary artery spasm 3, susceptibility to

Significance: Uncertain significance
ClinVar: RCV000001248

Variant: NM_032496.3(ARHGAP9):c.1108T>G (p.Ser370Ala)

Type: Variant
Allele: NM_032496.3(ARHGAP9):c.1108T>G (p.Ser370Ala) 16228
Gene:
Type: single nucleotide variant
Location: Chr12: 57870155 - assembly GRCh37
Chr12: 57476372 - assembly GRCh38
References: dbSNP: 11544238
OMIM: 610576.0001

Condition

Disease: Coronary artery spasm 3, susceptibility to

Citation

    Takefuji et al. (2010) analyzed 67 missense SNPs in Rho-family GTPases and their regulators in 103 unrelated Japanese individuals with acetylcholine-induced coronary artery spasm and 102 Japanese controls without acetylcholine-induced coronary artery spasm. They found a significant association between coronary artery spasm and a C-A transversion (rs11544238) in the ARHGAP9 gene, resulting in an ala370-to-ser (A370S) substitution in the PH domain (odds ratio, 2.67). Boyden chamber assay demonstrated that the ser370 mutant had a weaker inhibitory effect on cell migration, spreading, and adhesion than wildtype protein. Takefuji et al. (2010) suggested that ARHGAP9 variation has a critical function in the infiltration of hematopoietic cells into the endothelium and inflammation leading to endothelial dysfunction.
PMID:19911011