Paralogue Annotation for SCN5A residue 1338

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1338
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1338

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AL1331VEpileptic encephalopathyHigh9 23708187
SCN2AL1341RAutism spectrum disorderHigh9 24893065

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.



SCN5ALRPLRALSRFEGMRVVVNALVGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFGRCINQTE1368
SCN1ALRPLRALSRFEGMRVVVNALLGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFYHCINTTT1381
SCN2ALRPLRALSRFEGMRVVVNALLGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFYHCINYTT1371
SCN3ALRPLRALSRFEGMRVVVNALVGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFYHCVNMTT1369
SCN4ALRPLRALSRFEGMRVVVNALLGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFYYCINTTT1194
SCN7ALRPLRVLSQFERMKVVVRALIKTTLPTLNV>F<LVCLMIWLIFSIMGVDLFAGRFYECIDPTS1092
SCN8ALRPLRALSRFEGMRVVVNALVGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKYHYCFNETS1361
SCN9ALRPLRALSRFEGMRVVVNALIGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFYECINTTD1344
SCN10ALRPLRALSRFEGMRVVVDALVGAIPSIMNV>L<LVCLIFWLIFSIMGVNLFAGKFWRCINYTD1315
SCN11ALRPLRALSQFEGMKVVVNALIGAIPAILNV>L<LVCLIFWLVFCILGVYFFSGKFGKCINGTD1212
CACNA1ALRPLKTIKRLPKLKAVFDCVVNSLKNVFNI>L<IVYMLFMFIFAVVAVQLFKGKFFHCTDESK1411
CACNA1BLRPLKTIKRLPKLKAVFDCVVNSLKNVLNI>L<IVYMLFMFIFAVIAVQLFKGKFFYCTDESK1317
CACNA1CLRPLRAINRAKGLKHVVQCVFVAIRTIGNI>V<IVTTLLQFMFACIGVQLFKGKLYTCSDSSK1063
CACNA1DLRPLRAINRAKGLKHVVQCVFVAIRTIGNI>M<IVTTLLQFMFACIGVQLFKGKFYRCTDEAK1069
CACNA1ELRPLKTIKRLPKLKAVFDCVVTSLKNVFNI>L<IVYKLFMFIFAVIAVQLFKGKFFYCTDSSK1323
CACNA1FLRPLRAINRAKGLKHVVQCVFVAIRTIGNI>M<IVTTLLQFMFACIGVQLFKGKFYTCTDEAK1034
CACNA1GLRPLRVISRAQGLKLVVETLMSSLKPIGNI>V<VICCAFFIIFGILGVQLFKGKFFVCQGED-1445
CACNA1HLRPLRVISRAPGLKLVVETLISSLRPIGNI>V<LICCAFFIIFGILGVQLFKGKFYYCEGPD-1463
CACNA1ILRPLRVISRAPGLKLVVETLISSLKPIGNI>V<LICCAFFIIFGILGVQLFKGKFYHCLGVD-1339
CACNA1SLRPLRAINRAKGLKHVVQCMFVAISTIGNI>V<LVTTLLQFMFACIGVQLFKGKFFRCTDLSK962
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1338Vc.4012C>G Inherited ArrhythmiaLQTSrs199473227SIFT: deleterious
Polyphen: probably 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