Paralogue Annotation for SCN5A residue 1098

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1098
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1098

No paralogue variants have been mapped to residue 1098 for SCN5A.



SCN5A-----------GGPEAP-----PDSRTWSQ>V<SATASS------EA---------EASASQA1113
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<HQENKK------PT---------SQRVQSV964
CACNA1APLAEDIDNMKNNKLATAESAAPHGSLGHAG>L<PQSPAKMGNSTDPGPMLAIPAMATNPQNAA1121
CACNA1B-------------------EKE-------->A<TEKEAEIVEADKEKELR-NHQPREPHCDLE1031
CACNA1C----------------------EMPVGPRP>-<------------------------------859
CACNA1D----------------------EVPAGPRP>-<------------------------------865
CACNA1E------------------------------>M<GRVI-------S------QSEPDLSCITAN1059
CACNA1F----------------------EEEGAGGV>-<------------------------------830
CACNA1G----------------------NLSKGERV>-<------------------------------1236
CACNA1H----------------------EDSCCLRL>-<------------------------------1254
CACNA1I----------------------DYTLCFRV>-<------------------------------1130
CACNA1S----------------------EIPLSPRP>-<------------------------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1098Lc.3292G>T Putative Benignrs199473191SIFT: 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