No paralogue variants have been mapped to residue 490 for CACNA1C.
| CACNA1C | ------SVNTENVAG-G-D----IEGEN-C>G<------------------------------ | 490 |
| CACNA1A | ------LLNPEEAED-QLA----DIA-S-V>G<------------------------------ | 450 |
| CACNA1B | ------LIHAEEGED-RFA----DLC-A-V>G<------------------------------ | 446 |
| CACNA1D | ------SVNTENVSG-EGE----NRG-C-C>G<SLWCWWR-------RRGA-AKA-------- | 504 |
| CACNA1E | ------AMTRDSSDE-HCV----DIS-S-V>G<------------------------------ | 439 |
| CACNA1F | ------RS-THSTSSHASL----P-A-SDT>G<SMTETQG-------DEDE-EEG-------- | 490 |
| CACNA1G | ------ADSGACGPD-SCP----YCA-R-A>G<-----AG-----EVELADREMP-DSDSEAV | 693 |
| CACNA1H | ------AGTLTCELK-SCP----YCT-R-A>L<-----ED-P---EGELSGSESG-DSDGRGV | 727 |
| CACNA1I | ------------DPA-SCP----CCQ-H-E>D<-----GR-RPSGLGS---TDSGQEGSGSGS | 581 |
| CACNA1S | ------SLY-EI------------------>-<--------------------AG-------- | 403 |
| SCN10A | D---AGQKKTFLSAE-YLDEPFRAQR-A-M>S<VVSIITSV----L-EELE-ESE-------- | 628 |
| SCN11A | --KRLSQNLSLDHFD-EHGDPLQRQR-A-L>S<AVSILTIT----M-KEQE-KSQ-------- | 540 |
| SCN1A | EMRKRRSSSFHVSMD-FLEDPSQRQR-A-M>S<IASILTNT----V-EELE-ESR-------- | 731 |
| SCN2A | EIRKRRSSSYHVSMD-LLEDPTSRQR-A-M>S<IASILTNT----M-EELE-ESR-------- | 722 |
| SCN3A | EVRKRRLSSYQISME-MLEDSSGRQR-A-V>S<IASILTNT----M-EELE-ESR-------- | 723 |
| SCN4A | ----------------E---KGAPRQ-S-S>S<GDSGISDA----M-EELE-EAH-------- | 541 |
| SCN5A | PGGPQMLTSQAPCVD-GFEEPGARQR-A-L>S<AVSVLTSA----L-EELE-ESR-------- | 680 |
| SCN7A | EMKKRSPISTDTSLD-VLEDATLRHK---->-<--------------EELE-KSK-------- | 468 |
| SCN8A | EIKKKGPGSLLVSMD-QLASYGRKDR-I-N>S<IMSVVTNTL---V-EELE-ESQ-------- | 716 |
| SCN9A | H-KKRRCSSYLLSED-MLNDPNLRQR-A-M>S<RASILTNT----V-EELE-ESR-------- | 696 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G490R | c.1468G>A | Inherited Arrhythmia | BrS,HCM | rs121912775 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 115(4):442-9. 17224476 | ||
| Inherited Arrhythmia | BrS | Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010 7(12):1872-82. 20817017 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Cardiomyopathy | HCM | DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies. J Mol Diagn. 2014 16(1):32-44. doi: 10.1016/j.jmoldx.2013.07.008. 24183960 | |||
| Unknown | Disease variants in genomes of 44 centenarians. Mol Genet Genomic Med. 2014 2(5):438-50. doi: 10.1002/mgg3.86. 25333069 | ||||