Paralogue Annotation for SCN5A residue 1329

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1329
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1329

No paralogue variants have been mapped to residue 1329 for SCN5A.



SCN5AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1359
SCN1AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1372
SCN2AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1362
SCN3AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1360
SCN4AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1185
SCN7ALKPLISMKFLRPLRVLSQFERMKVVVRALI>K<TTLPTLNVFLVCLMIWLIFSIMGVDLFAGR1083
SCN8AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1352
SCN9AIKSLRTLRALRPLRALSRFEGMRVVVNALI>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1335
SCN10AIKALRTLRALRPLRALSRFEGMRVVVDALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1306
SCN11ALKSFRTLRALRPLRALSQFEGMKVVVNALI>G<AIPAILNVLLVCLIFWLVFCILGVYFFSGK1203
CACNA1AIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>N<SLKNVFNILIVYMLFMFIFAVVAVQLFKGK1402
CACNA1BIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>N<SLKNVLNILIVYMLFMFIFAVIAVQLFKGK1308
CACNA1CVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIVIVTTLLQFMFACIGVQLFKGK1054
CACNA1DVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIMIVTTLLQFMFACIGVQLFKGK1060
CACNA1EIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>T<SLKNVFNILIVYKLFMFIFAVIAVQLFKGK1314
CACNA1FVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIMIVTTLLQFMFACIGVQLFKGK1025
CACNA1GLRVLRLLRTLRPLRVISRAQGLKLVVETLM>S<SLKPIGNIVVICCAFFIIFGILGVQLFKGK1437
CACNA1HLRVLRLLRTLRPLRVISRAPGLKLVVETLI>S<SLRPIGNIVLICCAFFIIFGILGVQLFKGK1455
CACNA1ILRVLRLLRTLRPLRVISRAPGLKLVVETLI>S<SLKPIGNIVLICCAFFIIFGILGVQLFKGK1331
CACNA1SVKILRVLRVLRPLRAINRAKGLKHVVQCMF>V<AISTIGNIVLVTTLLQFMFACIGVQLFKGK953
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1329Sc.3985G>A Inherited ArrhythmiaLQTSrs199473223SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing of patients with long QT syndrome. Rev Esp Cardiol. 2011 64(1):71-4. 21216356
Inherited ArrhythmiaLQTS Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783