Paralogue Annotation for SCN5A residue 1334

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1334
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1334

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI1160VHyperkalaemic periodic paralysisHigh9 1659948, 9336185
SCN8AI1327VEpileptic encephalopathy, multiple congenital anomHigh9 24352161, 25799905, 26993267

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.



SCN5ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFGRCI1364
SCN1ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI1377
SCN2ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCI1367
SCN3ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYHCV1365
SCN4ATLRALRPLRALSRFEGMRVVVNALLGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYYCI1190
SCN7ASMKFLRPLRVLSQFERMKVVVRALIKTTLP>T<LNVFLVCLMIWLIFSIMGVDLFAGRFYECI1088
SCN8ATLRALRPLRALSRFEGMRVVVNALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKYHYCF1357
SCN9ATLRALRPLRALSRFEGMRVVVNALIGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFYECI1340
SCN10ATLRALRPLRALSRFEGMRVVVDALVGAIPS>I<MNVLLVCLIFWLIFSIMGVNLFAGKFWRCI1311
SCN11ATLRALRPLRALSQFEGMKVVVNALIGAIPA>I<LNVLLVCLIFWLVFCILGVYFFSGKFGKCI1208
CACNA1AVLRVLRPLKTIKRLPKLKAVFDCVVNSLKN>V<FNILIVYMLFMFIFAVVAVQLFKGKFFHCT1407
CACNA1BVLRVLRPLKTIKRLPKLKAVFDCVVNSLKN>V<LNILIVYMLFMFIFAVIAVQLFKGKFFYCT1313
CACNA1CVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIVIVTTLLQFMFACIGVQLFKGKLYTCS1059
CACNA1DVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIMIVTTLLQFMFACIGVQLFKGKFYRCT1065
CACNA1EVLRVLRPLKTIKRLPKLKAVFDCVVTSLKN>V<FNILIVYKLFMFIFAVIAVQLFKGKFFYCT1319
CACNA1FVLRVLRPLRAINRAKGLKHVVQCVFVAIRT>I<GNIMIVTTLLQFMFACIGVQLFKGKFYTCT1030
CACNA1GLLRTLRPLRVISRAQGLKLVVETLMSSLKP>I<GNIVVICCAFFIIFGILGVQLFKGKFFVCQ1442
CACNA1HLLRTLRPLRVISRAPGLKLVVETLISSLRP>I<GNIVLICCAFFIIFGILGVQLFKGKFYYCE1460
CACNA1ILLRTLRPLRVISRAPGLKLVVETLISSLKP>I<GNIVLICCAFFIIFGILGVQLFKGKFYHCL1336
CACNA1SVLRVLRPLRAINRAKGLKHVVQCMFVAIST>I<GNIVLVTTLLQFMFACIGVQLFKGKFFRCT958
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1334Vc.4000A>G Inherited ArrhythmiaLQTSrs199473226SIFT: deleterious
Polyphen: possibly 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