No paralogue variants have been mapped to residue 2130 for CACNA1C.
| CACNA1C | ----------GCV-----RARGRPSEEELQ>D<SRVYVSSL | 2138 |
| CACNA1A | -------------------------RSPSE>G<REHMAHRQ | 2261 |
| CACNA1B | LG-LS--------------SGGR--ARHSY>H<HPDQDHWC | 2340 |
| CACNA1D | ----------E-E-----PDPGR-DEEDLA>D<EMICITTL | 2181 |
| CACNA1E | RR-RG-----GPG-----PGMMCGAVNNLL>S<DTEEDDKC | 2313 |
| CACNA1F | ----------E-E-----SILSRFDEEDLG>D<EMACVHAL | 1977 |
| CACNA1G | ------------------------------>-<-------P | 2377 |
| CACNA1H | KRRGLYLTVPQ-CPLEKPGSPSA--TPA-P>G<-GGADDPV | 2353 |
| CACNA1I | -----------------PQPLPG--ELE-P>G<DAASKRKR | 2223 |
| CACNA1S | ------------G-----SSLGSLDQHQGS>Q<ETLIPPRL | 1873 |
| SCN10A | -----------------------------T>S<MELIAPGP | 1956 |
| SCN11A | ------------------------------>-<-------D | 1791 |
| SCN1A | -----------------------------K>G<-------K | 2009 |
| SCN2A | -----------------------------K>G<KDIRESKK | 2005 |
| SCN3A | -----------------------------K>G<KEVRENQK | 2000 |
| SCN4A | -----------------------------V>R<PGVKESLV | 1836 |
| SCN5A | -------------------------DFPPS>P<DRDRESIV | 2016 |
| SCN7A | ------------------------------>-<---IQSQI | 1682 |
| SCN8A | -----------------------------R>Q<KEVRESKC | 1980 |
| SCN9A | -----------------------------K>G<KDSKESKK | 1977 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D2130N | c.6388G>A | Inherited Arrhythmia | BrS | rs199473392 | SIFT: deleterious Polyphen: |
| Reports | 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 | ||