No paralogue variants have been mapped to residue 1219 for SCN5A.
SCN5A | KVWWRLRKTCYHIVEHSWFETFIIFMILLS>S<GALAFEDIYLEERKTIKVLLEYADKMFTYV | 1249 |
SCN1A | KQWWNLRRTCFRIVEHNWFETFIVFMILLS>S<GALAFEDIYIDQRKTIKTMLEYADKVFTYI | 1262 |
SCN2A | KLWWNLRKTCYKIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRKTIKTMLEYADKVFTYI | 1252 |
SCN3A | KIWWNLRKTCYSIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRKTIKTMLEYADKVFTYI | 1250 |
SCN4A | KKWWTLRRACFKIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRRVIRTILEYADKVFTYI | 1075 |
SCN7A | KIWQNIRKTCCKIVENNWFKCFIGLVTLLS>T<GTLAFEDIYMDQRKTIKILLEYADMIFTYI | 978 |
SCN8A | KSWWILRKTCFLIVEHNWFETFIIFMILLS>S<GALAFEDIYIEQRKTIRTILEYADKVFTYI | 1242 |
SCN9A | KIWWNIRKTCYKIVEHSWFESFIVLMILLS>S<GALAFEDIYIERKKTIKIILEYADKIFTYI | 1225 |
SCN10A | DVGWQVRKTCYRIVEHSWFESFIIFMILLS>S<GSLAFEDYYLDQKPTVKALLEYTDRVFTFI | 1196 |
SCN11A | VIWWNLRKTCYQIVKHSWFESFIIFVILLS>S<GALIFEDVHLENQPKIQELLNCTDIIFTHI | 1100 |
CACNA1A | STTNPLRRLCHYILNLRYFEMCILMVIAMS>S<IALAAEDPV-QPNAPRNNVLRYFDYVFTGV | 1287 |
CACNA1B | SPTNLLRRFCHYIVTMRYFEVVILVVIALS>S<IALAAEDPV-RTDSPRNNALKYLDYIFTGV | 1194 |
CACNA1C | SSNNRFRLQCHRIVNDTIFTNLILFFILLS>S<ISLAAEDPV-QHTSFRNHILFYFDIVFTTI | 943 |
CACNA1D | SKTNPIRVGCHKLINHHIFTNLILVFIMLS>S<AALAAEDPI-RSHSFRNTILGYFDYAFTAI | 949 |
CACNA1E | STTNPIRRACHYIVNLRYFEMCILLVIAAS>S<IALAAEDPV-LTNSERNKVLRYFDYVFTGV | 1196 |
CACNA1F | SQTNPLRKGCHTLIHHHVFTNLILVFIILS>S<VSLAAEDPI-RAHSFRNHILGYFDYAFTSI | 914 |
CACNA1G | PPQSRFRLLCHRIITHKMFDHVVLVIIFLN>C<ITIAMERPKIDPHSAERIFLTLSNYIFTAV | 1320 |
CACNA1H | SPQNRFRVSCQKVITHKMFDHVVLVFIFLN>C<VTIALERPDIDPGSTERVFLSVSNYIFTAI | 1338 |
CACNA1I | SPENRFRVLCQTIIAHKLFDYVVLAFIFLN>C<ITIALERPQIEAGSTERIFLTVSNYIFTAI | 1214 |
CACNA1S | SPTNKIRVLCHRIVNATWFTNFILLFILLS>S<AALAAEDPI-RADSMRNQILKHFDIGFTSV | 842 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1219N | c.3656G>A | Inherited Arrhythmia | BrS | rs199473597 | 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 |