No paralogue variants have been mapped to residue 673 for SCN5A.
SCN5A | VD-GFEEPGARQR-A-LSAVSVLTSA---->L<-EELE-ESR--------------------- | 680 |
SCN1A | MD-FLEDPSQRQR-A-MSIASILTNT---->V<-EELE-ESR--------------------- | 731 |
SCN2A | MD-LLEDPTSRQR-A-MSIASILTNT---->M<-EELE-ESR--------------------- | 722 |
SCN3A | ME-MLEDSSGRQR-A-VSIASILTNT---->M<-EELE-ESR--------------------- | 723 |
SCN4A | ---E---KGAPRQ-S-SSGDSGISDA---->M<-EELE-EAH--------------------- | 541 |
SCN7A | LD-VLEDATLRHK----------------->-<-EELE-KSK--------------------- | 468 |
SCN8A | MD-QLASYGRKDR-I-NSIMSVVTNTL--->V<-EELE-ESQ--------------------- | 716 |
SCN9A | ED-MLNDPNLRQR-A-MSRASILTNT---->V<-EELE-ESR--------------------- | 696 |
SCN10A | AE-YLDEPFRAQR-A-MSVVSIITSV---->L<-EELE-ESE--------------------- | 628 |
SCN11A | FD-EHGDPLQRQR-A-LSAVSILTIT---->M<-KEQE-KSQ--------------------- | 540 |
CACNA1A | ED-QLA----DIA-S-VG------------>-<------------------------------ | 450 |
CACNA1B | ED-RFA----DLC-A-VG------------>-<------------------------------ | 446 |
CACNA1C | AG-G-D----IEGEN-CG------------>-<------------------------------ | 490 |
CACNA1D | SG-EGE----NRG-C-CGSLWCWWR----->-<-RRGA-AKA--------------------- | 504 |
CACNA1E | DE-HCV----DIS-S-VG------------>-<------------------------------ | 439 |
CACNA1F | SSHASL----P-A-SDTGSMTETQG----->-<-DEDE-EEG--------------------- | 490 |
CACNA1G | PD-SCP----YCA-R-AG-----AG----->E<VELADREMP-DSDSEAVYEFTQDAQHSDLR | 706 |
CACNA1H | LK-SCP----YCT-R-AL-----ED-P--->E<GELSGSESG-DSDGRGVYEFTQDVRHGDRW | 740 |
CACNA1I | PA-SCP----CCQ-H-ED-----GR-RPSG>L<GS---TDSGQEGSGSGSSAGGEDE-A---D | 590 |
CACNA1S | ------------------------------>-<-------AG--------------------- | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L673P | c.2018T>C | Inherited Arrhythmia | LQTS | rs199473141 | SIFT: deleterious Polyphen: benign |
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 |