No paralogue variants have been mapped to residue 1346 for SCN5A.
SCN5A | RFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFGRCINQTEGDL-P-LN | 1374 |
SCN1A | RFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCINTTTGDR---FD | 1386 |
SCN2A | RFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCINYTTGEM---FD | 1376 |
SCN3A | RFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYHCVNMTTGNM---FD | 1374 |
SCN4A | RFEGMRVVVNALLGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYYCINTTTSER---FD | 1199 |
SCN7A | QFERMKVVVRALIKTTLPTLNVFLVCLMIW>L<IFSIMGVDLFAGRFYECIDPTSGER---FP | 1097 |
SCN8A | RFEGMRVVVNALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKYHYCFNETSEIR---FE | 1366 |
SCN9A | RFEGMRVVVNALIGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFYECINTTDGSR---FP | 1349 |
SCN10A | RFEGMRVVVDALVGAIPSIMNVLLVCLIFW>L<IFSIMGVNLFAGKFWRCINYTDGEF-SLVP | 1322 |
SCN11A | QFEGMKVVVNALIGAIPAILNVLLVCLIFW>L<VFCILGVYFFSGKFGKCINGTDSVI----N | 1216 |
CACNA1A | RLPKLKAVFDCVVNSLKNVFNILIVYMLFM>F<IFAVVAVQLFKGKFFHCTDESKEFEKDCRG | 1419 |
CACNA1B | RLPKLKAVFDCVVNSLKNVLNILIVYMLFM>F<IFAVIAVQLFKGKFFYCTDESKELERDCRG | 1325 |
CACNA1C | RAKGLKHVVQCVFVAIRTIGNIVIVTTLLQ>F<MFACIGVQLFKGKLYTCSDSSKQTEAECKG | 1071 |
CACNA1D | RAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ>F<MFACIGVQLFKGKFYRCTDEAKSNPEECRG | 1077 |
CACNA1E | RLPKLKAVFDCVVTSLKNVFNILIVYKLFM>F<IFAVIAVQLFKGKFFYCTDSSKDTEKECIG | 1331 |
CACNA1F | RAKGLKHVVQCVFVAIRTIGNIMIVTTLLQ>F<MFACIGVQLFKGKFYTCTDEAKHTPQECKG | 1042 |
CACNA1G | RAQGLKLVVETLMSSLKPIGNIVVICCAFF>I<IFGILGVQLFKGKFFVCQGED--------- | 1445 |
CACNA1H | RAPGLKLVVETLISSLRPIGNIVLICCAFF>I<IFGILGVQLFKGKFYYCEGPD--------- | 1463 |
CACNA1I | RAPGLKLVVETLISSLKPIGNIVLICCAFF>I<IFGILGVQLFKGKFYHCLGVD--------- | 1339 |
CACNA1S | RAKGLKHVVQCMFVAISTIGNIVLVTTLLQ>F<MFACIGVQLFKGKFFRCTDLSKMTEEECRG | 970 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1346I | c.4036C>A | Inherited Arrhythmia | BrS | rs199473230 | 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 | ||
p.L1346P | c.4037T>C | Inherited Arrhythmia | BrS | rs199473231 | 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 |