Paralogue Annotation for SCN5A residue 1311

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1311
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1311

No paralogue variants have been mapped to residue 1311 for SCN5A.



SCN5ALVAN-T----LGFAEMGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC1341
SCN1ALTAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC1354
SCN2ALTAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC1344
SCN3ALVAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC1342
SCN4ALVAN-W----LGYSELGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC1167
SCN7ALIGK-T----RE--E---LKPLISMKFLRP>L<RVLSQFERMKVVVRALIKTTLPTLNVFLVC1065
SCN8ALIAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC1334
SCN9ALVAN-T----LGYSDLGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALIGAIPSIMNVLLVC1317
SCN10ALTAK-I----LEYSEVAPIKALRTLRALRP>L<RALSRFEGMRVVVDALVGAIPSIMNVLLVC1288
SCN11ALI---------N---LMELKSFRTLRALRP>L<RALSQFEGMKVVVNALIGAIPAILNVLLVC1185
CACNA1AFAFTGN----SKGKDINTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVNSLKNVFNILIVY1384
CACNA1BFAFS-G----SKGKDINTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVNSLKNVLNILIVY1290
CACNA1CF----G----IQSSAINVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIVIVT1036
CACNA1DF----G----IQSSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIMIVT1042
CACNA1EFALANA-LGTNKGRDIKTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVTSLKNVFNILIVY1296
CACNA1FF----G----IHSSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIMIVT1007
CACNA1GILVS-MVSD-SGTKILGMLRVLRLLRTLRP>L<RVISRAQGLKLVVETLMSSLKPIGNIVVIC1419
CACNA1HIVVA-MASA-GGAKILGVLRVLRLLRTLRP>L<RVISRAPGLKLVVETLISSLRPIGNIVLIC1437
CACNA1IIVVS-LASA-GGAKILGVLRVLRLLRTLRP>L<RVISRAPGLKLVVETLISSLKPIGNIVLIC1313
CACNA1SM----G----LESSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCMFVAISTIGNIVLVT935
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1311Pc.3932T>C Inherited ArrhythmiaBrSrs199473219SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283