Paralogue Annotation for SCN5A residue 2012

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 2012
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 2012

No paralogue variants have been mapped to residue 2012 for SCN5A.



SCN5A---------------------DFPPSPDRD>R<ESIV2016
SCN1A-------------------------KG--->-<---K2009
SCN2A-------------------------KGKDI>R<ESKK2005
SCN3A-------------------------KGKEV>R<ENQK2000
SCN4A-------------------------VRPGV>K<ESLV1836
SCN7A------------------------------>I<QSQI1682
SCN8A-------------------------RQKEV>R<ESKC1980
SCN9A-------------------------KGKDS>K<ESKK1977
SCN10A-------------------------TSMEL>I<APGP1956
SCN11A------------------------------>-<---D1791
CACNA1A---------------------RSPSEGREH>M<AHRQ2261
CACNA1BS--------------SGGR--ARHSYHHPD>Q<DHWC2340
CACNA1C------GCV-----RARGRPSEEELQDSRV>Y<VSSL2138
CACNA1D------E-E-----PDPGR-DEEDLADEMI>C<ITTL2181
CACNA1EG-----GPG-----PGMMCGAVNNLLSDTE>E<DDKC2313
CACNA1F------E-E-----SILSRFDEEDLGDEMA>C<VHAL1977
CACNA1G------------------------------>-<---P2377
CACNA1HLYLTVPQ-CPLEKPGSPSA--TPA-PG-GG>A<DDPV2353
CACNA1I-------------PQPLPG--ELE-PGDAA>S<KRKR2223
CACNA1S--------G-----SSLGSLDQHQGSQETL>I<PPRL1873
cons                              > <    

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2012Cc.6034C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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
p.R2012Hc.6035G>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068