Paralogue Annotation for SCN5A residue 1199

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1199
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1199

No paralogue variants have been mapped to residue 1199 for SCN5A.



SCN5AVRR-CPCCAVDTTQAP---GKVWWRLRKTC>Y<HIVEHSWFETFIIFMILLSSGALAFEDIYL1229
SCN1AVQR-FKCCQINVEEGR---GKQWWNLRRTC>F<RIVEHNWFETFIVFMILLSSGALAFEDIYI1242
SCN2AVRK-FKCCQISIEEGK---GKLWWNLRKTC>Y<KIVEHNWFETFIVFMILLSSGALAFEDIYI1232
SCN3AIKK-FPFCQVSTEEGK---GKIWWNLRKTC>Y<SIVEHNWFETFIVFMILLSSGALAFEDIYI1230
SCN4AVQR-WPCLYVDISQGR---GKKWWTLRRAC>F<KIVEHNWFETFIVFMILLSSGALAFEDIYI1055
SCN7ARRG-SSLGQISGASKK---GKIWQNIRKTC>C<KIVENNWFKCFIGLVTLLSTGTLAFEDIYM958
SCN8AVQR-FKCCQVNIEEGL---GKSWWILRKTC>F<LIVEHNWFETFIIFMILLSSGALAFEDIYI1222
SCN9AVWR-FSCCQVNIESGK---GKIWWNIRKTC>Y<KIVEHSWFESFIVLMILLSSGALAFEDIYI1205
SCN10AIRH-CPCCKLDTTKSP---WDVGWQVRKTC>Y<RIVEHSWFESFIIFMILLSSGSLAFEDYYL1176
SCN11AGCC-FPCCSVDKRKPP---WVIWWNLRKTC>Y<QIVKHSWFESFIIFVILLSSGALIFEDVHL1080
CACNA1ADRGEDGPK-PMPPYSSMFILSTTNPLRRLC>H<YILNLRYFEMCILMVIAMSSIALAAEDPV-1267
CACNA1BDVMRSGPR-PIVPYSSMFCLSPTNLLRRFC>H<YIVTMRYFEVVILVVIALSSIALAAEDPV-1174
CACNA1C--LKEKAV-PMPEASAFFIFSSNNRFRLQC>H<RIVNDTIFTNLILFFILLSSISLAAEDPV-923
CACNA1D--MKEKIA-PIPEGSAFFILSKTNPIRVGC>H<KLINHHIFTNLILVFIMLSSAALAAEDPI-929
CACNA1EEKRETG-K-AMVPHSSMFIFSTTNPIRRAC>H<YIVNLRYFEMCILLVIAASSIALAAEDPV-1176
CACNA1F--PKEKVV-PIPEGSAFFCLSQTNPLRKGC>H<TLIHHHVFTNLILVFIILSSVSLAAEDPI-894
CACNA1G--LP-ACCLERDSWSAY-IFPPQSRFRLLC>H<RIITHKMFDHVVLVIIFLNCITIAMERPKI1300
CACNA1H--KP-QWCRSREAWALY-LFSPQNRFRVSC>Q<KVITHKMFDHVVLVFIFLNCVTIALERPDI1318
CACNA1I--KP-DWCEVREDWSVY-LFSPENRFRVLC>Q<TIIAHKLFDYVVLAFIFLNCITIALERPQI1194
CACNA1S--LKEKAV-PIPEASSFFIFSPTNKIRVLC>H<RIVNATWFTNFILLFILLSSAALAAEDPI-822
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1199Sc.3596A>C Inherited ArrhythmiaLQTSrs199473202SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085