From: Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients
Patient/sex and origin | Diagnosis | Mutation | Mutation status | Mutation details |
---|---|---|---|---|
#1/M HDCOC* | Hypertensive individuals with eccentric left ventricle remodeling | 843 C>T Silent mutation | Hemizygosis | In exon 11, 8 bp downstream an exonic splicing enhancer - ESE - consensus sequence |
#2/F HDCOC* | Hypertensive individuals with eccentric left ventricle remodeling | IVS6+12_18dupTTTTGAG intronic | Heterozygosis | In intron 6 near the 5'donor splice site (10 bp downstream) |
#3/F DHZB$ | Hypertrophic cardiomyopathy (HCM) | 37 C>T Missense mutation | Heterozygosis | In exon 1, causes a His13Tyr substitution in the CHORD domain |