Paralogue Annotation for SCN5A residue 1219

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1219
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1219

No paralogue variants have been mapped to residue 1219 for SCN5A.



SCN5AKVWWRLRKTCYHIVEHSWFETFIIFMILLS>S<GALAFEDIYLEERKTIKVLLEYADKMFTYV1249
SCN1AKQWWNLRRTCFRIVEHNWFETFIVFMILLS>S<GALAFEDIYIDQRKTIKTMLEYADKVFTYI1262
SCN2AKLWWNLRKTCYKIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRKTIKTMLEYADKVFTYI1252
SCN3AKIWWNLRKTCYSIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRKTIKTMLEYADKVFTYI1250
SCN4AKKWWTLRRACFKIVEHNWFETFIVFMILLS>S<GALAFEDIYIEQRRVIRTILEYADKVFTYI1075
SCN7AKIWQNIRKTCCKIVENNWFKCFIGLVTLLS>T<GTLAFEDIYMDQRKTIKILLEYADMIFTYI978
SCN8AKSWWILRKTCFLIVEHNWFETFIIFMILLS>S<GALAFEDIYIEQRKTIRTILEYADKVFTYI1242
SCN9AKIWWNIRKTCYKIVEHSWFESFIVLMILLS>S<GALAFEDIYIERKKTIKIILEYADKIFTYI1225
SCN10ADVGWQVRKTCYRIVEHSWFESFIIFMILLS>S<GSLAFEDYYLDQKPTVKALLEYTDRVFTFI1196
SCN11AVIWWNLRKTCYQIVKHSWFESFIIFVILLS>S<GALIFEDVHLENQPKIQELLNCTDIIFTHI1100
CACNA1ASTTNPLRRLCHYILNLRYFEMCILMVIAMS>S<IALAAEDPV-QPNAPRNNVLRYFDYVFTGV1287
CACNA1BSPTNLLRRFCHYIVTMRYFEVVILVVIALS>S<IALAAEDPV-RTDSPRNNALKYLDYIFTGV1194
CACNA1CSSNNRFRLQCHRIVNDTIFTNLILFFILLS>S<ISLAAEDPV-QHTSFRNHILFYFDIVFTTI943
CACNA1DSKTNPIRVGCHKLINHHIFTNLILVFIMLS>S<AALAAEDPI-RSHSFRNTILGYFDYAFTAI949
CACNA1ESTTNPIRRACHYIVNLRYFEMCILLVIAAS>S<IALAAEDPV-LTNSERNKVLRYFDYVFTGV1196
CACNA1FSQTNPLRKGCHTLIHHHVFTNLILVFIILS>S<VSLAAEDPI-RAHSFRNHILGYFDYAFTSI914
CACNA1GPPQSRFRLLCHRIITHKMFDHVVLVIIFLN>C<ITIAMERPKIDPHSAERIFLTLSNYIFTAV1320
CACNA1HSPQNRFRVSCQKVITHKMFDHVVLVFIFLN>C<VTIALERPDIDPGSTERVFLSVSNYIFTAI1338
CACNA1ISPENRFRVLCQTIIAHKLFDYVVLAFIFLN>C<ITIALERPQIEAGSTERIFLTVSNYIFTAI1214
CACNA1SSPTNKIRVLCHRIVNATWFTNFILLFILLS>S<AALAAEDPI-RADSMRNQILKHFDIGFTSV842
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1219Nc.3656G>A Inherited ArrhythmiaBrSSIFT: 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