No paralogue variants have been mapped to residue 485 for CACNA1C.
CACNA1C | -E----------SVNTENVAG-G-D----I>E<GEN-CG------------------------ | 490 |
CACNA1A | -D----------LLNPEEAED-QLA----D>I<A-S-VG------------------------ | 450 |
CACNA1B | -D----------LIHAEEGED-RFA----D>L<C-A-VG------------------------ | 446 |
CACNA1D | -E----------SVNTENVSG-EGE----N>R<G-C-CGSLWCWWR-------RRGA-AKA-- | 504 |
CACNA1E | -E----------AMTRDSSDE-HCV----D>I<S-S-VG------------------------ | 439 |
CACNA1F | -T----------RS-THSTSSHASL----P>-<A-SDTGSMTETQG-------DEDE-EEG-- | 490 |
CACNA1G | LK----------ADSGACGPD-SCP----Y>C<A-R-AG-----AG-----EVELADREMP-D | 687 |
CACNA1H | PP----------AGTLTCELK-SCP----Y>C<T-R-AL-----ED-P---EGELSGSESG-D | 721 |
CACNA1I | ------------------DPA-SCP----C>C<Q-H-ED-----GR-RPSGLGS---TDSGQE | 575 |
CACNA1S | -E----------SLY-EI------------>-<--------------------------AG-- | 403 |
SCN10A | VDVSAFD---AGQKKTFLSAE-YLDEPFRA>Q<R-A-MSVVSIITSV----L-EELE-ESE-- | 628 |
SCN11A | --------KRLSQNLSLDHFD-EHGDPLQR>Q<R-A-LSAVSILTIT----M-KEQE-KSQ-- | 540 |
SCN1A | GTTTETEMRKRRSSSFHVSMD-FLEDPSQR>Q<R-A-MSIASILTNT----V-EELE-ESR-- | 731 |
SCN2A | GTTTETEIRKRRSSSYHVSMD-LLEDPTSR>Q<R-A-MSIASILTNT----M-EELE-ESR-- | 722 |
SCN3A | GTTTETEVRKRRLSSYQISME-MLEDSSGR>Q<R-A-VSIASILTNT----M-EELE-ESR-- | 723 |
SCN4A | ----------------------E---KGAP>R<Q-S-SSGDSGISDA----M-EELE-EAH-- | 541 |
SCN5A | TTPSEEPGGPQMLTSQAPCVD-GFEEPGAR>Q<R-A-LSAVSVLTSA----L-EELE-ESR-- | 680 |
SCN7A | --TIQIEMKKRSPISTDTSLD-VLEDATLR>H<K-------------------EELE-KSK-- | 468 |
SCN8A | A-TTEVEIKKKGPGSLLVSMD-QLASYGRK>D<R-I-NSIMSVVTNTL---V-EELE-ESQ-- | 716 |
SCN9A | -TTNQIH-KKRRCSSYLLSED-MLNDPNLR>Q<R-A-MSRASILTNT----V-EELE-ESR-- | 696 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E485D | c.1455G>C | Putative Benign | SIFT: Polyphen: |