Paralogue Annotation for SCN5A residue 1082

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1082
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1082

No paralogue variants have been mapped to residue 1082 for SCN5A.



SCN5ANSLGTEEE-------------SSKQQESQP>V<S-----------------------------1083
SCN1ASSESDLEE-------------SK---E--->-<------------------------------1143
SCN2ASSESDMEE-------------SK---E--->-<------------------------------1133
SCN3ASSESELEE-------------SK---E--->-<------------------------------1131
SCN4ADTFSEPED-------------SKKPPQ--->-<------------------------------955
SCN7AQSKSGDGG-------------SK---E--->-<------------------------------864
SCN8ASSESDPEG-------------SK---D--->-<------------------------------1124
SCN9ASSDSDSEY-------------SK---V--->-<------------------------------1106
SCN10AKDESVPQV-------------PA---E--->-<------------------------------1076
SCN11AQRITQPEP-------------EQQAYEL-->-<------------------------------949
CACNA1A-------------RHGAPATYEGDARREDK>E<RRHRRRKENQGSGVPVSGPNLSTTRPIQQD1054
CACNA1B-------------RARHKAQPAHEAVEKET>T<------------------------------998
CACNA1CGEEDEEEP---------------------->-<------------------------------851
CACNA1DEEEEEDEP---------------------->-<------------------------------857
CACNA1ELPHPELEVGKHVVLTEQEPEGSSEQALLGN>V<QLD---------------------------1041
CACNA1FEEEEEEEE---------------------->-<------------------------------822
CACNA1GGDDADDEG---------------------->-<------------------------------1228
CACNA1HAAELDDDS---------------------->-<------------------------------1246
CACNA1IRGEDEEEI---------------------->-<------------------------------1122
CACNA1SGDDEEDEP---------------------->-<------------------------------750
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1082Ac.3245T>C Putative Benignrs199473189SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative 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