No paralogue variants have been mapped to residue 547 for CACNA1C.
CACNA1C | CRAAVKSNVFYWLVIFLVFLNTLTIASEHY>N<QPNWLTEVQDTANKALLALFTAEMLLKMYS | 577 |
CACNA1A | IRRMVKTQAFYWTVLSLVALNTLCVAIVHY>N<QPEWLSDFLYYAEFIFLGLFMSEMFIKMYG | 540 |
CACNA1B | IRRMVKAQSFYWVVLCVVALNTLCVAMVHY>N<QPRRLTTTLYFAEFVFLGLFLTEMSLKMYG | 536 |
CACNA1D | CRAAVKSVTFYWLVIVLVFLNTLTISSEHY>N<QPDWLTQIQDIANKVLLALFTCEMLVKMYS | 596 |
CACNA1E | IRHMVKSQVFYWIVLSLVALNTACVAIVHH>N<QPQWLTHLLYYAEFLFLGLFLLEMSLKMYG | 529 |
CACNA1F | CRRAVKSNACYWAVLLLVFLNTLTIASEHH>G<QPVWLTQIQEYANKVLLCLFTVEMLLKLYG | 582 |
CACNA1G | FRKIVDSKYFGRGIMIAILVNTLSMGIEYH>E<QPEELTNALEISNIVFTSLFALEMLLKLLV | 796 |
CACNA1H | LRRIVDSKYFSRGIMMAILVNTLSMGVEYH>E<QPEELTNALEISNIVFTSMFALEMLLKLLA | 846 |
CACNA1I | LRGIVDSKYFNRGIMMAILVNTVSMGIEHH>E<QPEELTNILEICNVVFTSMFALEMILKLAA | 693 |
CACNA1S | CHDIVKSKVFYWLVILIVALNTLSIASEHH>N<QPLWLTRLQDIANRVLLSLFTTEMLMKMYG | 485 |
SCN10A | LFGLVTDPFAELTITLCIVVNTIFMAMEHH>G<MSPTFEAMLQIGNIVFTIFFTAEMVFKIIA | 718 |
SCN11A | LRTVMTDPFTELAITICIIINTVFLAMEHH>K<MEASFEKMLNIGNLVFTSIFIAEMCLKIIA | 630 |
SCN1A | VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTDHFNNVLTVGNLVFTGIFTAEMFLKIIA | 821 |
SCN2A | VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLSVGNLVFTGIFTAEMFLKIIA | 812 |
SCN3A | VNLIVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLTVGNLVFTGIFTAEMVLKIIA | 813 |
SCN4A | IHLIVMDPFVDLGITICIVLNTLFMAMEHY>P<MTEHFDNVLTVGNLVFTGIFTAEMVLKLIA | 631 |
SCN5A | VKLVVMDPFTDLTITMCIVLNTLFMALEHY>N<MTSEFEEMLQVGNLVFTGIFTAEMTFKIIA | 770 |
SCN7A | VHRIIMAPFTDLFLIICIILNVCFLTLEHY>P<MSKQTNTLLNIGNLVFIGIFTAEMIFKIIA | 558 |
SCN8A | VNLIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTPQFEHVLAVGNLVFTGIFTAEMFLKLIA | 806 |
SCN9A | IYFIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTEEFKNVLAIGNLVFTGIFAAEMVLKLIA | 786 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N547S | c.1640A>G | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ J. 2013 77(7):1799-806. 23575362 |