No paralogue variants have been mapped to residue 1298 for SCN5A.
SCN5A | WLDFLIVDVSLVSLVAN-T----LGFAEMG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALV | 1328 |
SCN1A | WLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL | 1341 |
SCN2A | WLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL | 1331 |
SCN3A | WLDFLIVDVSLVSLVAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV | 1329 |
SCN4A | WLDFLIVDVSIISLVAN-W----LGYSELG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALL | 1154 |
SCN7A | RLDFVVVIVFCLSLIGK-T----RE--E-->-<LKPLISMKFLRPLRVLSQFERMKVVVRALI | 1052 |
SCN8A | WLDFLIVAVSLVSLIAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV | 1321 |
SCN9A | WLDFLIVDVSLVTLVAN-T----LGYSDLG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALI | 1304 |
SCN10A | WLDFLIVNISLISLTAK-I----LEYSEVA>P<IKALRTLRALRPLRALSRFEGMRVVVDALV | 1275 |
SCN11A | CLDFIIVIVSVTTLI---------N---LM>E<LKSFRTLRALRPLRALSQFEGMKVVVNALI | 1172 |
CACNA1A | ILDFIVVSGALVAFAFTGN----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV | 1371 |
CACNA1B | ILDFIVVSGALVAFAFS-G----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV | 1277 |
CACNA1C | ILDLLVVSVSLISF----G----IQSSAIN>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF | 1023 |
CACNA1D | LLDMLVVGVSLVSF----G----IQSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF | 1029 |
CACNA1E | ILDFVVVVGALVAFALANA-LGTNKGRDIK>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV | 1283 |
CACNA1F | MLDLLVVSVSLISF----G----IHSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF | 994 |
CACNA1G | VLDGLLVLISVIDILVS-MVSD-SGTKILG>M<LRVLRLLRTLRPLRVISRAQGLKLVVETLM | 1406 |
CACNA1H | LLDGLLVLVSLVDIVVA-MASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI | 1424 |
CACNA1I | VLDGFLVFVSIIDIVVS-LASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI | 1300 |
CACNA1S | MLDLLVVAVSLISM----G----LESSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCMF | 922 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1298L | c.3893C>T | Other Cardiac Phenotype | rs28937319 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other 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 |