No paralogue variants have been mapped to residue 1408 for SCN5A.
SCN5A | NKSQCESLNLTGE--LYWTKVKVNFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRGYEEQP | 1438 |
SCN1A | NHTDCLKLIERNET-ARWKNVKVNFDNVGF>G<YLSLLQVATFKGWMDIMYAAVDSRNVELQP | 1451 |
SCN2A | NYSECKALIESNQT-ARWKNVKVNFDNVGL>G<YLSLLQVATFKGWMDIMYAAVDSRNVELQP | 1441 |
SCN3A | NLSDCQALGK--Q--ARWKNVKVNFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRDVKLQP | 1436 |
SCN4A | NKSECESLMHTGQ--VRWLNVKVNYDNVGL>G<YLSLLQVATFKGWMDIMYAAVDSREKEEQP | 1263 |
SCN7A | NKSRCESLLFNES--MLWENAKMNFDNVGN>G<FLSLLQVATFNGWITIMNSAIDSVAVNIQP | 1161 |
SCN8A | NKTECEKLMEGNNTEIRWKNVKINFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRKPDEQP | 1432 |
SCN9A | NRSECFALMNVSQN-VRWKNLKVNFDNVGL>G<YLSLLQVATFKGWTIIMYAAVDSVNVDKQP | 1414 |
SCN10A | NKSDCKIQNSTGS--FFWVNVKVNFDNVAM>G<YLALLQVATFKGWMDIMYAAVDSREVNMQP | 1386 |
SCN11A | NKSQCESGN------FSWINQKVNFDNVGN>A<YLALLQVATFKGWMDIIYAAVDSTEKEQQP | 1276 |
CACNA1A | EKNEVK----AR--DREWKKYEFHYDNVLW>A<LLTLFTVSTGEGWPQVLKHSVDATFENQGP | 1479 |
CACNA1B | EKEEVE----AQ--PRQWKKYDFHYDNVLW>A<LLTLFTVSTGEGWPMVLKHSVDATYEEQGP | 1385 |
CACNA1C | KDGEVDHP-IIQ--PRSWENSKFDFDNVLA>A<MMALFTVSTFEGWPELLYRSIDSHTEDKGP | 1134 |
CACNA1D | KDGDVDSP-VVR--ERIWQNSDFNFDNVLS>A<MMALFTVSTFEGWPALLYKAIDSNGENIGP | 1140 |
CACNA1E | EKNKME----VK--GREWKRHEFHYDNIIW>A<LLTLFTVSTGEGWPQVLQHSVDVTEEDRGP | 1391 |
CACNA1F | PDGDVSRP-LVR--ERLWVNSDFNFDNVLS>A<MMALFTVSTFEGWPALLYKAIDAYAEDHGP | 1105 |
CACNA1G | NKSDCA----EA--SYRWVRHKYNFDNLGQ>A<LMSLFVLASKDGWVDIMYDGLDAVGVDQQP | 1505 |
CACNA1H | TKAQCR----AA--HYRWVRRKYNFDNLGQ>A<LMSLFVLSSKDGWVNIMYDGLDAVGVDQQP | 1523 |
CACNA1I | NRSDCM----AA--NYRWVHHKYNFDNLGQ>A<LMSLFVLASKDGWVNIMYNGLDAVAVDQQP | 1399 |
CACNA1S | KDGDPMQI-ELR--HREWVHSDFHFDNVLS>A<MMSLFTVSTFEGWPQLLYKAIDSNAEDVGP | 1033 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1408R | c.4222G>A | Inherited Arrhythmia | LQTS,BrS | rs137854612 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation. 2001 104(25):3081-6. 11748104 | ||
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 | ||||
Inherited Arrhythmia | LQTS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 | |||
Inherited Arrhythmia | BrS | 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 | |||
Inherited Arrhythmia | BrS | Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757 |