Paralogue Annotation for SCN5A residue 1341

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1341
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1341

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AY1385CHemiplegic migraine, coma, cerebellar atrophyMedium9 11061267, 22082423
SCN1AC1354YDravet 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.



SCN5ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFGRCINQTEGDL1371
SCN1ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCINTTTGDR1384
SCN2ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCINYTTGEM1374
SCN3ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCVNMTTGNM1372
SCN4ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYYCINTTTSER1197
SCN7ALRVLSQFERMKVVVRALIKTTLPTLNVFLV>C<LMIWLIFSIMGVDLFAGRFYECIDPTSGER1095
SCN8ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKYHYCFNETSEIR1364
SCN9ALRALSRFEGMRVVVNALIGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYECINTTDGSR1347
SCN10ALRALSRFEGMRVVVDALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFWRCINYTDGEF1318
SCN11ALRALSQFEGMKVVVNALIGAIPAILNVLLV>C<LIFWLVFCILGVYFFSGKFGKCINGTDSVI1215
CACNA1ALKTIKRLPKLKAVFDCVVNSLKNVFNILIV>Y<MLFMFIFAVVAVQLFKGKFFHCTDESKEFE1414
CACNA1BLKTIKRLPKLKAVFDCVVNSLKNVLNILIV>Y<MLFMFIFAVIAVQLFKGKFFYCTDESKELE1320
CACNA1CLRAINRAKGLKHVVQCVFVAIRTIGNIVIV>T<TLLQFMFACIGVQLFKGKLYTCSDSSKQTE1066
CACNA1DLRAINRAKGLKHVVQCVFVAIRTIGNIMIV>T<TLLQFMFACIGVQLFKGKFYRCTDEAKSNP1072
CACNA1ELKTIKRLPKLKAVFDCVVTSLKNVFNILIV>Y<KLFMFIFAVIAVQLFKGKFFYCTDSSKDTE1326
CACNA1FLRAINRAKGLKHVVQCVFVAIRTIGNIMIV>T<TLLQFMFACIGVQLFKGKFYTCTDEAKHTP1037
CACNA1GLRVISRAQGLKLVVETLMSSLKPIGNIVVI>C<CAFFIIFGILGVQLFKGKFFVCQGED----1445
CACNA1HLRVISRAPGLKLVVETLISSLRPIGNIVLI>C<CAFFIIFGILGVQLFKGKFYYCEGPD----1463
CACNA1ILRVISRAPGLKLVVETLISSLKPIGNIVLI>C<CAFFIIFGILGVQLFKGKFYHCLGVD----1339
CACNA1SLRAINRAKGLKHVVQCMFVAISTIGNIVLV>T<TLLQFMFACIGVQLFKGKFFRCTDLSKMTE965
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1341 for SCN5A.