Paralogue Annotation for SCN5A residue 1023

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1023
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1023

No paralogue variants have been mapped to residue 1023 for SCN5A.



SCN5A----QGQLPSCIATPYSPPP-PETEKVPPT>R<KETRFEEG--EQPGQG--------------1037
SCN1ALDDLNNKKDSCMSNHT--------AEIGKD>L<DYLKDVNG--TTSGIG--------------1087
SCN2ALEDLNNKKDSCISNHT-------TIEIGKD>L<NYLKDGNG--TTSGI---------------1078
SCN3A----GNKIDSCMSNNT-------GIEISKE>L<NYLRDGNG--TTSGVG--------------1075
SCN4AADGAGEAGEAGETAPE-------DEKKEPP>E<EDLKKDNH--ILNHMG--------------898
SCN7AVNEVYVKED--ISDHTL-------SELSNT>Q<DFLKDKEK--S-S-----------------812
SCN8ALDELYEKKANCIANHT-------GADIHRN>G<DFQKNGNG--TTSGI---------------1070
SCN9AAEDLNTKKENYISNHT-------LAEMSKG>H<NFLKEKD---KISGF---------------1051
SCN10ALPLSSSKAENHIAANT-------------->-<-----ARG--SSGGLQ--------------975
SCN11A----KEVAGGCAAQ---------SKDIIPL>V<MEMKRGSE--TQEELG--------------898
CACNA1AEMDPDERWKAAYTR-HLRPDMKTHLDRPLV>V<DPQENRN-NNTNKSRAAEPTVDQRLGQQ-R854
CACNA1BEMDPEERLRFATTR-HLRPDMKTHLDRPLV>V<ELGRDGA-RGPVGGKARPEAAEAPEGVD-P848
CACNA1C------------------------------>-<----------------------------EK786
CACNA1D------------------------------>-<----------------------------EN805
CACNA1EEEAPTMNPLNPLNP-LSSL-------NPLN>A<HPSLYRR-PRAIEGLAL-----GLALEKFE846
CACNA1F------------------------------>-<----------------------------V-790
CACNA1GLLPPLIIHTAATPM-SLPKSTSTGLGEALG>P<ASRRTS-SSGSAEPGA--------------1079
CACNA1HLSPPLIMCTAATPM-PTPKS-SPFLDAAPS>L<PDSRRGSSSS-GDP-P--------------1114
CACNA1ILGGHLGPAGAAGPA-P--RL-SLQPDPMLV>A<LGSRKSSVMS-LGR-M--------------960
CACNA1S------------------------------>-<----------------------------EE697
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1023Hc.3068G>A Inherited ArrhythmiaBrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation. 2005 112(24):3680-7. 16344400
Inherited ArrhythmiaBrS Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164
p.R1023Cc.3067C>T Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities. Int J Cardiol. 2013 165(2):e21-3. doi: 10.1016/j.ijcard.2012.10.074. 23168001
p.R1023Pc.3068G>C Putative BenignSIFT:
Polyphen: