No paralogue variants have been mapped to residue 487 for CACNA1C.
CACNA1C | ----------SVNTENVAG-G-D----IEG>E<N-CG-------------------------- | 490 |
CACNA1A | ----------LLNPEEAED-QLA----DIA>-<S-VG-------------------------- | 450 |
CACNA1B | ----------LIHAEEGED-RFA----DLC>-<A-VG-------------------------- | 446 |
CACNA1D | ----------SVNTENVSG-EGE----NRG>-<C-CGSLWCWWR-------RRGA-AKA---- | 504 |
CACNA1E | ----------AMTRDSSDE-HCV----DIS>-<S-VG-------------------------- | 439 |
CACNA1F | ----------RS-THSTSSHASL----P-A>-<SDTGSMTETQG-------DEDE-EEG---- | 490 |
CACNA1G | ----------ADSGACGPD-SCP----YCA>-<R-AG-----AG-----EVELADREMP-DSD | 689 |
CACNA1H | ----------AGTLTCELK-SCP----YCT>-<R-AL-----ED-P---EGELSGSESG-DSD | 723 |
CACNA1I | ----------------DPA-SCP----CCQ>-<H-ED-----GR-RPSGLGS---TDSGQEGS | 577 |
CACNA1S | ----------SLY-EI-------------->-<------------------------AG---- | 403 |
SCN10A | VSAFD---AGQKKTFLSAE-YLDEPFRAQR>-<A-MSVVSIITSV----L-EELE-ESE---- | 628 |
SCN11A | ------KRLSQNLSLDHFD-EHGDPLQRQR>-<A-LSAVSILTIT----M-KEQE-KSQ---- | 540 |
SCN1A | TTETEMRKRRSSSFHVSMD-FLEDPSQRQR>-<A-MSIASILTNT----V-EELE-ESR---- | 731 |
SCN2A | TTETEIRKRRSSSYHVSMD-LLEDPTSRQR>-<A-MSIASILTNT----M-EELE-ESR---- | 722 |
SCN3A | TTETEVRKRRLSSYQISME-MLEDSSGRQR>-<A-VSIASILTNT----M-EELE-ESR---- | 723 |
SCN4A | --------------------E---KGAPRQ>-<S-SSGDSGISDA----M-EELE-EAH---- | 541 |
SCN5A | PSEEPGGPQMLTSQAPCVD-GFEEPGARQR>-<A-LSAVSVLTSA----L-EELE-ESR---- | 680 |
SCN7A | TIQIEMKKRSPISTDTSLD-VLEDATLRHK>-<------------------EELE-KSK---- | 468 |
SCN8A | TTEVEIKKKGPGSLLVSMD-QLASYGRKDR>-<I-NSIMSVVTNTL---V-EELE-ESQ---- | 716 |
SCN9A | TNQIH-KKRRCSSYLLSED-MLNDPNLRQR>-<A-MSRASILTNT----V-EELE-ESR---- | 696 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E487A | c.1460A>C | Putative Benign | SIFT: Polyphen: |