Paralogue Annotation for SCN5A residue 1309

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1309
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1309

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AR1312TNeonatal-infantile seizuresHigh9 19783390, 22677033, 23195492
SCN4AR1135HHypokalaemic periodic paralysisHigh9 19118277, 24549961
SCN4AR1135CHyperkalaemic periodic paralysisHigh9 24549961
SCN1AR1322IDravet syndromeHigh9 25459968

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AVSLVAN-T----LGFAEMGPIKSLRTLRAL>R<PLRALSRFEGMRVVVNALVGAIPSIMNVLL1339
SCN1AVSLTAN-A----LGYSELGAIKSLRTLRAL>R<PLRALSRFEGMRVVVNALLGAIPSIMNVLL1352
SCN2AVSLTAN-A----LGYSELGAIKSLRTLRAL>R<PLRALSRFEGMRVVVNALLGAIPSIMNVLL1342
SCN3AVSLVAN-A----LGYSELGAIKSLRTLRAL>R<PLRALSRFEGMRVVVNALVGAIPSIMNVLL1340
SCN4AISLVAN-W----LGYSELGPIKSLRTLRAL>R<PLRALSRFEGMRVVVNALLGAIPSIMNVLL1165
SCN7ALSLIGK-T----RE--E---LKPLISMKFL>R<PLRVLSQFERMKVVVRALIKTTLPTLNVFL1063
SCN8AVSLIAN-A----LGYSELGAIKSLRTLRAL>R<PLRALSRFEGMRVVVNALVGAIPSIMNVLL1332
SCN9AVTLVAN-T----LGYSDLGPIKSLRTLRAL>R<PLRALSRFEGMRVVVNALIGAIPSIMNVLL1315
SCN10AISLTAK-I----LEYSEVAPIKALRTLRAL>R<PLRALSRFEGMRVVVDALVGAIPSIMNVLL1286
SCN11ATTLI---------N---LMELKSFRTLRAL>R<PLRALSQFEGMKVVVNALIGAIPAILNVLL1183
CACNA1AVAFAFTGN----SKGKDINTIKSLRVLRVL>R<PLKTIKRLPKLKAVFDCVVNSLKNVFNILI1382
CACNA1BVAFAFS-G----SKGKDINTIKSLRVLRVL>R<PLKTIKRLPKLKAVFDCVVNSLKNVLNILI1288
CACNA1CISF----G----IQSSAINVVKILRVLRVL>R<PLRAINRAKGLKHVVQCVFVAIRTIGNIVI1034
CACNA1DVSF----G----IQSSAISVVKILRVLRVL>R<PLRAINRAKGLKHVVQCVFVAIRTIGNIMI1040
CACNA1EVAFALANA-LGTNKGRDIKTIKSLRVLRVL>R<PLKTIKRLPKLKAVFDCVVTSLKNVFNILI1294
CACNA1FISF----G----IHSSAISVVKILRVLRVL>R<PLRAINRAKGLKHVVQCVFVAIRTIGNIMI1005
CACNA1GIDILVS-MVSD-SGTKILGMLRVLRLLRTL>R<PLRVISRAQGLKLVVETLMSSLKPIGNIVV1417
CACNA1HVDIVVA-MASA-GGAKILGVLRVLRLLRTL>R<PLRVISRAPGLKLVVETLISSLRPIGNIVL1435
CACNA1IIDIVVS-LASA-GGAKILGVLRVLRLLRTL>R<PLRVISRAPGLKLVVETLISSLKPIGNIVL1311
CACNA1SISM----G----LESSAISVVKILRVLRVL>R<PLRAINRAKGLKHVVQCMFVAISTIGNIVL933
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1309Hc.3926G>A Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias. J Mol Cell Cardiol. 2016 92:52-62. doi: 10.1016/j.yjmcc.2016.01.014. 26801742
p.Arg1309Cysc.3925C>T UnknownSIFT:
Polyphen: