No paralogue variants have been mapped to residue 538 for SCN5A.
SCN5A | SSRG--SIF------T--FRR-----R-DL>G<-----SEA-------DFADDENSTAGESES | 556 |
SCN1A | NSRT--SLF------S--FRG---RAK-DV>G<-----SEN-------DFADDEHSTFEDNES | 603 |
SCN2A | NSRA--SLF------S--FRG---RAK-DI>G<-----SEN-------DFADDEHSTFEDNDS | 606 |
SCN3A | NSKT--SIF------S--FRG---RAK-DV>G<-----SEN-------DFADDEHSTFEDSES | 606 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | NSKS--SIF------S--FRGPG-RFR-DP>G<-----SEN-------EFADDEHSTVEESEG | 596 |
SCN9A | SSRT--SLF------S--FKG---RGR-DI>G<-----SET-------EFADDEHSIFGDNES | 583 |
SCN10A | ASHG--SVF------H--FRS---PGR-DI>S<-----LPE-------GVTDDG-VFPGDHES | 532 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | -PFDG-ALR------R--TTI---K-K--->-<-----SKT---------------------- | 431 |
CACNA1B | -PLDA-VLK------R--AAT---K-K--->-<-----SRN---------------------- | 427 |
CACNA1C | ----EEKPR------N--MSM---P----->T<-----SET---------------------- | 471 |
CACNA1D | ----E-GKR------N--TSM---P----->T<-----SET---------------------- | 471 |
CACNA1E | -L--E-VLR------R--ATI---K-R--->-<-----SRT---------------------- | 420 |
CACNA1F | ----E-G-RAGHRPQL--AEL---T-NRRR>G<RLRWFSHS---------------------- | 457 |
CACNA1G | SPEIQ-DRD------ANGSRRLMLP-P--->-<-----PS-TPALSGAPPGGAESVHSFYHAD | 560 |
CACNA1H | EPGAC-DTR------LVR-----AG-A--->-<-----PPSPPSPGRGPPD-AESVHSIYHAD | 579 |
CACNA1I | ------------------------------>-<------A--------SPGNDHSGRELCPQH | 528 |
CACNA1S | ---------------S--LDE---G----->G<-----SDT---------------------- | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G538D | c.1613G>A | Putative Benign | SIFT: Polyphen: |