No paralogue variants have been mapped to residue 984 for CACNA1C.
CACNA1C | AYGAFLHKGSFCRNYFNILDLLVVSVSLIS>F<----G----IQSSAINVVKILRVLRVLRPL | 1006 |
CACNA1A | DLGLVLHQGAYFRDLWNILDFIVVSGALVA>F<AFTGN----SKGKDINTIKSLRVLRVLRPL | 1354 |
CACNA1B | DLGLLLHPGAYFRDLWNILDFIVVSGALVA>F<AFS-G----SKGKDINTIKSLRVLRVLRPL | 1260 |
CACNA1D | TFGAFLHKGAFCRNYFNLLDMLVVGVSLVS>F<----G----IQSSAISVVKILRVLRVLRPL | 1012 |
CACNA1E | DQGLILQDGSYFRDLWNILDFVVVVGALVA>F<ALANA-LGTNKGRDIKTIKSLRVLRVLRPL | 1266 |
CACNA1F | VFGAFLHRGSFCRSWFNMLDLLVVSVSLIS>F<----G----IHSSAISVVKILRVLRVLRPL | 977 |
CACNA1G | ALGWCFGEQAYLRSSWNVLDGLLVLISVID>I<LVS-MVSD-SGTKILGMLRVLRLLRTLRPL | 1389 |
CACNA1H | ALGLLSGEHAYLQSSWNLLDGLLVLVSLVD>I<VVA-MASA-GGAKILGVLRVLRLLRTLRPL | 1407 |
CACNA1I | SLGLYFGEQAYLRSSWNVLDGFLVFVSIID>I<VVS-LASA-GGAKILGVLRVLRLLRTLRPL | 1283 |
CACNA1S | TYGAFLHKGSFCRNYFNMLDLLVVAVSLIS>M<----G----LESSAISVVKILRVLRVLRPL | 905 |
SCN10A | AYGF----KKYFTNAWCWLDFLIVNISLIS>L<TAK-I----LEYSEVAPIKALRTLRALRPL | 1258 |
SCN11A | AFGF----GKYFTSAWCCLDFIIVIVSVTT>L<I---------N---LMELKSFRTLRALRPL | 1155 |
SCN1A | AYGY----QTYFTNAWCWLDFLIVDVSLVS>L<TAN-A----LGYSELGAIKSLRTLRALRPL | 1324 |
SCN2A | AYGF----QVYFTNAWCWLDFLIVDVSLVS>L<TAN-A----LGYSELGAIKSLRTLRALRPL | 1314 |
SCN3A | AYGF----QTYFTNAWCWLDFLIVDVSLVS>L<VAN-A----LGYSELGAIKSLRTLRALRPL | 1312 |
SCN4A | AYGF----KVYFTNAWCWLDFLIVDVSIIS>L<VAN-W----LGYSELGPIKSLRTLRALRPL | 1137 |
SCN5A | AYGF----KKYFTNAWCWLDFLIVDVSLVS>L<VAN-T----LGFAEMGPIKSLRTLRALRPL | 1311 |
SCN7A | AYGF----KAYFSNGWYRLDFVVVIVFCLS>L<IGK-T----RE--E---LKPLISMKFLRPL | 1035 |
SCN8A | AYGF----VKFFTNAWCWLDFLIVAVSLVS>L<IAN-A----LGYSELGAIKSLRTLRALRPL | 1304 |
SCN9A | AYGY----KTYFTNAWCWLDFLIVDVSLVT>L<VAN-T----LGYSDLGPIKSLRTLRALRPL | 1287 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F984S | c.2951T>C | Putative Benign | rs199919883 | SIFT: deleterious Polyphen: benign |