Paralogue Annotation for SCN5A residue 1116

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1116
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1116

No paralogue variants have been mapped to residue 1116 for SCN5A.



SCN5ATASS------EA---------EASASQADW>R<QQWKAEPQAPG----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
SCN11AENKK------PT---------SQRVQSVEI>D<MFSEDEPHLTIQDPRKKSD-V---------987
CACNA1ASPAKMGNSTDPGPMLAIPAMATNPQNAASR>R<TPNNPGNPSNPGPP--KTP-ENSLIVTNPS1151
CACNA1BKEAEIVEADKEKELR-NHQPREPHCDLETS>G<TVTVGPMHTLPSTC--LQK-VEEQPEDADN1061
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EVI-------S------QSEPDLSCITAN-->-<-----------TDK--ATT-ESTSVTVAIP1075
CACNA1F------------------------------>-<------------------------------
CACNA1G------------------------------>-<------------------------------
CACNA1H------------------------------>-<------------------------------
CACNA1I------------------------------>-<------------------------------
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1116Wc.3346C>T BenignSIFT: deleterious
Polyphen: benign
ReportsBenign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Benign An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
p.R1116Qc.3347G>A Putative BenignSIFT: tolerated
Polyphen: benign