No paralogue variants have been mapped to residue 1311 for SCN5A.
SCN5A | LVAN-T----LGFAEMGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC | 1341 |
SCN1A | LTAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC | 1354 |
SCN2A | LTAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC | 1344 |
SCN3A | LVAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC | 1342 |
SCN4A | LVAN-W----LGYSELGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALLGAIPSIMNVLLVC | 1167 |
SCN7A | LIGK-T----RE--E---LKPLISMKFLRP>L<RVLSQFERMKVVVRALIKTTLPTLNVFLVC | 1065 |
SCN8A | LIAN-A----LGYSELGAIKSLRTLRALRP>L<RALSRFEGMRVVVNALVGAIPSIMNVLLVC | 1334 |
SCN9A | LVAN-T----LGYSDLGPIKSLRTLRALRP>L<RALSRFEGMRVVVNALIGAIPSIMNVLLVC | 1317 |
SCN10A | LTAK-I----LEYSEVAPIKALRTLRALRP>L<RALSRFEGMRVVVDALVGAIPSIMNVLLVC | 1288 |
SCN11A | LI---------N---LMELKSFRTLRALRP>L<RALSQFEGMKVVVNALIGAIPAILNVLLVC | 1185 |
CACNA1A | FAFTGN----SKGKDINTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVNSLKNVFNILIVY | 1384 |
CACNA1B | FAFS-G----SKGKDINTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVNSLKNVLNILIVY | 1290 |
CACNA1C | F----G----IQSSAINVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIVIVT | 1036 |
CACNA1D | F----G----IQSSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIMIVT | 1042 |
CACNA1E | FALANA-LGTNKGRDIKTIKSLRVLRVLRP>L<KTIKRLPKLKAVFDCVVTSLKNVFNILIVY | 1296 |
CACNA1F | F----G----IHSSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCVFVAIRTIGNIMIVT | 1007 |
CACNA1G | ILVS-MVSD-SGTKILGMLRVLRLLRTLRP>L<RVISRAQGLKLVVETLMSSLKPIGNIVVIC | 1419 |
CACNA1H | IVVA-MASA-GGAKILGVLRVLRLLRTLRP>L<RVISRAPGLKLVVETLISSLRPIGNIVLIC | 1437 |
CACNA1I | IVVS-LASA-GGAKILGVLRVLRLLRTLRP>L<RVISRAPGLKLVVETLISSLKPIGNIVLIC | 1313 |
CACNA1S | M----G----LESSAISVVKILRVLRVLRP>L<RAINRAKGLKHVVQCMFVAISTIGNIVLVT | 935 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1311P | c.3932T>C | Inherited Arrhythmia | BrS | rs199473219 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 |