Paralogue Annotation for SCN5A residue 1298

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1298
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1298

No paralogue variants have been mapped to residue 1298 for SCN5A.



SCN5AWLDFLIVDVSLVSLVAN-T----LGFAEMG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALV1328
SCN1AWLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL1341
SCN2AWLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL1331
SCN3AWLDFLIVDVSLVSLVAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV1329
SCN4AWLDFLIVDVSIISLVAN-W----LGYSELG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALL1154
SCN7ARLDFVVVIVFCLSLIGK-T----RE--E-->-<LKPLISMKFLRPLRVLSQFERMKVVVRALI1052
SCN8AWLDFLIVAVSLVSLIAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV1321
SCN9AWLDFLIVDVSLVTLVAN-T----LGYSDLG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALI1304
SCN10AWLDFLIVNISLISLTAK-I----LEYSEVA>P<IKALRTLRALRPLRALSRFEGMRVVVDALV1275
SCN11ACLDFIIVIVSVTTLI---------N---LM>E<LKSFRTLRALRPLRALSQFEGMKVVVNALI1172
CACNA1AILDFIVVSGALVAFAFTGN----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1371
CACNA1BILDFIVVSGALVAFAFS-G----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1277
CACNA1CILDLLVVSVSLISF----G----IQSSAIN>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF1023
CACNA1DLLDMLVVGVSLVSF----G----IQSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF1029
CACNA1EILDFVVVVGALVAFALANA-LGTNKGRDIK>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1283
CACNA1FMLDLLVVSVSLISF----G----IHSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF994
CACNA1GVLDGLLVLISVIDILVS-MVSD-SGTKILG>M<LRVLRLLRTLRPLRVISRAQGLKLVVETLM1406
CACNA1HLLDGLLVLVSLVDIVVA-MASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI1424
CACNA1IVLDGFLVFVSIIDIVVS-LASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI1300
CACNA1SMLDLLVVAVSLISM----G----LESSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCMF922
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1298Lc.3893C>T Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003 112(7):1019-28. 14523039
Other Cardiac Phenotype Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. J Cardiovasc Electrophysiol. 2010 21(5):564-73. 20384651
Other Cardiac Phenotype Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. Circ Res. 2010 107(1):126-37. 20448214
Other Cardiac Phenotype Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757