No paralogue variants have been mapped to residue 671 for SCN5A.
SCN5A | TSQAPCVD-GFEEPGARQR-A-LSAVSVLT>S<A----L-EELE-ESR--------------- | 680 |
SCN1A | SSFHVSMD-FLEDPSQRQR-A-MSIASILT>N<T----V-EELE-ESR--------------- | 731 |
SCN2A | SSYHVSMD-LLEDPTSRQR-A-MSIASILT>N<T----M-EELE-ESR--------------- | 722 |
SCN3A | SSYQISME-MLEDSSGRQR-A-VSIASILT>N<T----M-EELE-ESR--------------- | 723 |
SCN4A | ---------E---KGAPRQ-S-SSGDSGIS>D<A----M-EELE-EAH--------------- | 541 |
SCN7A | ISTDTSLD-VLEDATLRHK----------->-<-------EELE-KSK--------------- | 468 |
SCN8A | GSLLVSMD-QLASYGRKDR-I-NSIMSVVT>N<TL---V-EELE-ESQ--------------- | 716 |
SCN9A | SSYLLSED-MLNDPNLRQR-A-MSRASILT>N<T----V-EELE-ESR--------------- | 696 |
SCN10A | KKTFLSAE-YLDEPFRAQR-A-MSVVSIIT>S<V----L-EELE-ESE--------------- | 628 |
SCN11A | NLSLDHFD-EHGDPLQRQR-A-LSAVSILT>I<T----M-KEQE-KSQ--------------- | 540 |
CACNA1A | LNPEEAED-QLA----DIA-S-VG------>-<------------------------------ | 450 |
CACNA1B | IHAEEGED-RFA----DLC-A-VG------>-<------------------------------ | 446 |
CACNA1C | VNTENVAG-G-D----IEGEN-CG------>-<------------------------------ | 490 |
CACNA1D | VNTENVSG-EGE----NRG-C-CGSLWCWW>R<-------RRGA-AKA--------------- | 504 |
CACNA1E | MTRDSSDE-HCV----DIS-S-VG------>-<------------------------------ | 439 |
CACNA1F | S-THSTSSHASL----P-A-SDTGSMTETQ>G<-------DEDE-EEG--------------- | 490 |
CACNA1G | DSGACGPD-SCP----YCA-R-AG-----A>G<-----EVELADREMP-DSDSEAVYEFTQDA | 700 |
CACNA1H | GTLTCELK-SCP----YCT-R-AL-----E>D<-P---EGELSGSESG-DSDGRGVYEFTQDV | 734 |
CACNA1I | -----DPA-SCP----CCQ-H-ED-----G>R<-RPSGLGS---TDSGQEGSGSGSSAGGEDE | 588 |
CACNA1S | LY-EI------------------------->-<-------------AG--------------- | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S671C | c.2011A>T | Putative Benign | SIFT: Polyphen: |