No paralogue variants have been mapped to residue 1114 for SCN5A.
SCN5A | SATASS------EA---------EASASQA>D<WRQQWKAEPQAPG----CGETPE------- | 1133 |
SCN1A | ------------------------------>-<------------------KLNES------- | 1148 |
SCN2A | ------------------------------>-<------------------KLN-A------- | 1137 |
SCN3A | ------------------------------>-<------------------KLN-A------- | 1135 |
SCN4A | ------------------------------>-<------------------PLY-D------- | 959 |
SCN7A | ------------------------------>-<------------------KIK-Q------- | 868 |
SCN8A | ------------------------------>-<------------------KLD-D------- | 1128 |
SCN9A | ------------------------------>-<------------------RLN-R------- | 1110 |
SCN10A | ------------------------------>-<------------------GVD-D------- | 1080 |
SCN11A | HQENKK------PT---------SQRVQSV>E<IDMFSEDEPHLTIQDPRKKSD-V------- | 987 |
CACNA1A | PQSPAKMGNSTDPGPMLAIPAMATNPQNAA>S<RRTPNNPGNPSNPGPP--KTP-ENSLIVTN | 1149 |
CACNA1B | TEKEAEIVEADKEKELR-NHQPREPHCDLE>T<SGTVTVGPMHTLPSTC--LQK-VEEQPEDA | 1059 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | GRVI-------S------QSEPDLSCITAN>-<-------------TDK--ATT-ESTSVTVA | 1073 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1114N | c.3340G>A | Inherited Arrhythmia | LQTS,BrS | rs199473195 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
Inherited Arrhythmia | LQTS | Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825 | |||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
Inherited Arrhythmia | BrS | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | |||
p.D1114E | c.3342C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 |