No paralogue variants have been mapped to residue 994 for CACNA1C.
| CACNA1C | LDLLVVSVSLISF----G----IQSSAINV>V<KILRVLRVLRPLRAINRAKGLKHVVQCVFV | 1024 |
| CACNA1A | LDFIVVSGALVAFAFTGN----SKGKDINT>I<KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN | 1372 |
| CACNA1B | LDFIVVSGALVAFAFS-G----SKGKDINT>I<KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN | 1278 |
| CACNA1D | LDMLVVGVSLVSF----G----IQSSAISV>V<KILRVLRVLRPLRAINRAKGLKHVVQCVFV | 1030 |
| CACNA1E | LDFVVVVGALVAFALANA-LGTNKGRDIKT>I<KSLRVLRVLRPLKTIKRLPKLKAVFDCVVT | 1284 |
| CACNA1F | LDLLVVSVSLISF----G----IHSSAISV>V<KILRVLRVLRPLRAINRAKGLKHVVQCVFV | 995 |
| CACNA1G | LDGLLVLISVIDILVS-MVSD-SGTKILGM>L<RVLRLLRTLRPLRVISRAQGLKLVVETLMS | 1407 |
| CACNA1H | LDGLLVLVSLVDIVVA-MASA-GGAKILGV>L<RVLRLLRTLRPLRVISRAPGLKLVVETLIS | 1425 |
| CACNA1I | LDGFLVFVSIIDIVVS-LASA-GGAKILGV>L<RVLRLLRTLRPLRVISRAPGLKLVVETLIS | 1301 |
| CACNA1S | LDLLVVAVSLISM----G----LESSAISV>V<KILRVLRVLRPLRAINRAKGLKHVVQCMFV | 923 |
| SCN10A | LDFLIVNISLISLTAK-I----LEYSEVAP>I<KALRTLRALRPLRALSRFEGMRVVVDALVG | 1276 |
| SCN11A | LDFIIVIVSVTTLI---------N---LME>L<KSFRTLRALRPLRALSQFEGMKVVVNALIG | 1173 |
| SCN1A | LDFLIVDVSLVSLTAN-A----LGYSELGA>I<KSLRTLRALRPLRALSRFEGMRVVVNALLG | 1342 |
| SCN2A | LDFLIVDVSLVSLTAN-A----LGYSELGA>I<KSLRTLRALRPLRALSRFEGMRVVVNALLG | 1332 |
| SCN3A | LDFLIVDVSLVSLVAN-A----LGYSELGA>I<KSLRTLRALRPLRALSRFEGMRVVVNALVG | 1330 |
| SCN4A | LDFLIVDVSIISLVAN-W----LGYSELGP>I<KSLRTLRALRPLRALSRFEGMRVVVNALLG | 1155 |
| SCN5A | LDFLIVDVSLVSLVAN-T----LGFAEMGP>I<KSLRTLRALRPLRALSRFEGMRVVVNALVG | 1329 |
| SCN7A | LDFVVVIVFCLSLIGK-T----RE--E--->L<KPLISMKFLRPLRVLSQFERMKVVVRALIK | 1053 |
| SCN8A | LDFLIVAVSLVSLIAN-A----LGYSELGA>I<KSLRTLRALRPLRALSRFEGMRVVVNALVG | 1322 |
| SCN9A | LDFLIVDVSLVTLVAN-T----LGYSDLGP>I<KSLRTLRALRPLRALSRFEGMRVVVNALIG | 1305 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V994M | c.2980G>A | Putative Benign | rs372495864 | SIFT: deleterious Polyphen: probably damaging |