No paralogue variants have been mapped to residue 550 for CACNA1C.
CACNA1C | AVKSNVFYWLVIFLVFLNTLTIASEHYNQP>N<WLTEVQDTANKALLALFTAEMLLKMYSLGL | 580 |
CACNA1A | MVKTQAFYWTVLSLVALNTLCVAIVHYNQP>E<WLSDFLYYAEFIFLGLFMSEMFIKMYGLGT | 543 |
CACNA1B | MVKAQSFYWVVLCVVALNTLCVAMVHYNQP>R<RLTTTLYFAEFVFLGLFLTEMSLKMYGLGP | 539 |
CACNA1D | AVKSVTFYWLVIVLVFLNTLTISSEHYNQP>D<WLTQIQDIANKVLLALFTCEMLVKMYSLGL | 599 |
CACNA1E | MVKSQVFYWIVLSLVALNTACVAIVHHNQP>Q<WLTHLLYYAEFLFLGLFLLEMSLKMYGMGP | 532 |
CACNA1F | AVKSNACYWAVLLLVFLNTLTIASEHHGQP>V<WLTQIQEYANKVLLCLFTVEMLLKLYGLGP | 585 |
CACNA1G | IVDSKYFGRGIMIAILVNTLSMGIEYHEQP>E<ELTNALEISNIVFTSLFALEMLLKLLVYGP | 799 |
CACNA1H | IVDSKYFSRGIMMAILVNTLSMGVEYHEQP>E<ELTNALEISNIVFTSMFALEMLLKLLACGP | 849 |
CACNA1I | IVDSKYFNRGIMMAILVNTVSMGIEHHEQP>E<ELTNILEICNVVFTSMFALEMILKLAAFGL | 696 |
CACNA1S | IVKSKVFYWLVILIVALNTLSIASEHHNQP>L<WLTRLQDIANRVLLSLFTTEMLMKMYGLGL | 488 |
SCN10A | LVTDPFAELTITLCIVVNTIFMAMEHHGMS>P<TFEAMLQIGNIVFTIFFTAEMVFKIIAFDP | 721 |
SCN11A | VMTDPFTELAITICIIINTVFLAMEHHKME>A<SFEKMLNIGNLVFTSIFIAEMCLKIIALDP | 633 |
SCN1A | VVMDPFVDLAITICIVLNTLFMAMEHYPMT>D<HFNNVLTVGNLVFTGIFTAEMFLKIIAMDP | 824 |
SCN2A | VVMDPFVDLAITICIVLNTLFMAMEHYPMT>E<QFSSVLSVGNLVFTGIFTAEMFLKIIAMDP | 815 |
SCN3A | IVMDPFVDLAITICIVLNTLFMAMEHYPMT>E<QFSSVLTVGNLVFTGIFTAEMVLKIIAMDP | 816 |
SCN4A | IVMDPFVDLGITICIVLNTLFMAMEHYPMT>E<HFDNVLTVGNLVFTGIFTAEMVLKLIAMDP | 634 |
SCN5A | VVMDPFTDLTITMCIVLNTLFMALEHYNMT>S<EFEEMLQVGNLVFTGIFTAEMTFKIIALDP | 773 |
SCN7A | IIMAPFTDLFLIICIILNVCFLTLEHYPMS>K<QTNTLLNIGNLVFIGIFTAEMIFKIIAMHP | 561 |
SCN8A | IVMDPFVDLAITICIVLNTLFMAMEHHPMT>P<QFEHVLAVGNLVFTGIFTAEMFLKLIAMDP | 809 |
SCN9A | IVMDPFVDLAITICIVLNTLFMAMEHHPMT>E<EFKNVLAIGNLVFTGIFAAEMVLKLIAMDP | 789 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N550S | c.1649A>G | Putative Benign | SIFT: Polyphen: | ||
p.N550K | c.1650C>A | Putative Benign | SIFT: Polyphen: |