Paralogue Annotation for SCN5A residue 1114

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1114
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1114

No paralogue variants have been mapped to residue 1114 for SCN5A.



SCN5ASATASS------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
SCN11AHQENKK------PT---------SQRVQSV>E<IDMFSEDEPHLTIQDPRKKSD-V-------987
CACNA1APQSPAKMGNSTDPGPMLAIPAMATNPQNAA>S<RRTPNNPGNPSNPGPP--KTP-ENSLIVTN1149
CACNA1BTEKEAEIVEADKEKELR-NHQPREPHCDLE>T<SGTVTVGPMHTLPSTC--LQK-VEEQPEDA1059
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EGRVI-------S------QSEPDLSCITAN>-<-------------TDK--ATT-ESTSVTVA1073
CACNA1F------------------------------>-<------------------------------
CACNA1G------------------------------>-<------------------------------
CACNA1H------------------------------>-<------------------------------
CACNA1I------------------------------>-<------------------------------
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1114Nc.3340G>A Inherited ArrhythmiaLQTS,BrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaBrS 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.D1114Ec.3342C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS 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