No paralogue variants have been mapped to residue 530 for SCN5A.
SCN5A | ------HLSLTRGLSRTSMKPRSSRG--SI>F<------T--FRR-----R-DLG-----SEA | 541 |
SCN1A | KRYSSPHQSLLSIRGSLFSPRRNSRT--SL>F<------S--FRG---RAK-DVG-----SEN | 588 |
SCN2A | KRFSSPHQSLLSIRGSLFSPRRNSRA--SL>F<------S--FRG---RAK-DIG-----SEN | 591 |
SCN3A | KKFCSPHQSLLSIRGSLFSPRRNSKT--SI>F<------S--FRG---RAK-DVG-----SEN | 591 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | RKFSIMNQSLLSIPGSPFLSRHNSKS--SI>F<------S--FRGPG-RFR-DPG-----SEN | 581 |
SCN9A | KRLSTPNQSPLSIRGSLFSARRSSRT--SL>F<------S--FKG---RGR-DIG-----SET | 568 |
SCN10A | --------RRMSFLGLASGKRRASHG--SV>F<------H--FRS---PGR-DIS-----LPE | 518 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | -----------------------PFDG-AL>R<------R--TTI---K-K---------SKT | 431 |
CACNA1B | -----------------------PLDA-VL>K<------R--AAT---K-K---------SRN | 427 |
CACNA1C | --------------------------EEKP>R<------N--MSM---P-----T-----SET | 471 |
CACNA1D | --------------------------E-GK>R<------N--TSM---P-----T-----SET | 471 |
CACNA1E | -----------------------L--E-VL>R<------R--ATI---K-R---------SRT | 420 |
CACNA1F | --------------------------E-G->R<AGHRPQL--AEL---T-NRRRGRLRWFSHS | 457 |
CACNA1G | HHHHHHHHYHL-GNGTLRAPRASPEIQ-DR>D<------ANGSRRLMLP-P---------PS- | 538 |
CACNA1H | HHHHHHHHYHF-SHGSPRRPGPEPGAC-DT>R<------LVR-----AG-A---------PPS | 558 |
CACNA1I | GRHLGSRHCQT-LHGP-------------->-<----------------------------A- | 513 |
CACNA1S | ------------------------------>-<------S--LDE---G-----G-----SDT | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F530V | c.1588T>G | Inherited Arrhythmia | LQTS | rs199473120 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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 | ||
p.F530S | c.1589T>C | Putative Benign | SIFT: Polyphen: |