No paralogue variants have been mapped to residue 582 for CACNA1C.
CACNA1C | LTEVQDTANKALLALFTAEMLLKMYSLGLQ>A<YFVSLFNRFDCFVVCGGILETILVETKIMS | 612 |
CACNA1A | LSDFLYYAEFIFLGLFMSEMFIKMYGLGTR>P<YFHSSFNCFDCGVIIGSIFEVIWAVIKPGT | 575 |
CACNA1B | LTTTLYFAEFVFLGLFLTEMSLKMYGLGPR>S<YFRSSFNCFDFGVIVGSVFEVVWAAIKPGS | 571 |
CACNA1D | LTQIQDIANKVLLALFTCEMLVKMYSLGLQ>A<YFVSLFNRFDCFVVCGGITETILVELEIMS | 631 |
CACNA1E | LTHLLYYAEFLFLGLFLLEMSLKMYGMGPR>L<YFHSSFNCFDFGVTVGSIFEVVWAIFRPGT | 564 |
CACNA1F | LTQIQEYANKVLLCLFTVEMLLKLYGLGPS>A<YVSSFFNRFDCFVVCGGILETTLVEVGAMQ | 617 |
CACNA1G | LTNALEISNIVFTSLFALEMLLKLLVYGPF>G<YIKNPYNIFDGVIVVISVWEIVGQQGG--- | 828 |
CACNA1H | LTNALEISNIVFTSMFALEMLLKLLACGPL>G<YIRNPYNIFDGIIVVISVWEIVGQADG--- | 878 |
CACNA1I | LTNILEICNVVFTSMFALEMILKLAAFGLF>D<YLRNPYNIFDSIIVIISIWEIVGQADG--- | 725 |
CACNA1S | LTRLQDIANRVLLSLFTTEMLMKMYGLGLR>Q<YFMSIFNRFDCFVVCSGILEILLVESGAMT | 520 |
SCN10A | FEAMLQIGNIVFTIFFTAEMVFKIIAFDPY>Y<YFQKKWNIFDCIIVTVSLLELGVAKKG--- | 750 |
SCN11A | FEKMLNIGNLVFTSIFIAEMCLKIIALDPY>H<YFRRGWNIFDSIVALLSFADVMNCVLQKR- | 664 |
SCN1A | FNNVLTVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVTLSLVELGLANVE--- | 853 |
SCN2A | FSSVLSVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELGLANVE--- | 844 |
SCN3A | FSSVLTVGNLVFTGIFTAEMVLKIIAMDPY>Y<YFQEGWNIFDGIIVSLSLMELGLSNVE--- | 845 |
SCN4A | FDNVLTVGNLVFTGIFTAEMVLKLIAMDPY>E<YFQQGWNIFDSIIVTLSLVELGLANVQ--- | 663 |
SCN5A | FEEMLQVGNLVFTGIFTAEMTFKIIALDPY>Y<YFQQGWNIFDSIIVILSLMELGLSRMS--- | 802 |
SCN7A | TNTLLNIGNLVFIGIFTAEMIFKIIAMHPY>G<YFQVGWNIFDSMIVFHGLIELCLANVA--- | 590 |
SCN8A | FEHVLAVGNLVFTGIFTAEMFLKLIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELSLADVE--- | 838 |
SCN9A | FKNVLAIGNLVFTGIFAAEMVLKLIAMDPY>E<YFQVGWNIFDSLIVTLSLVELFLADVE--- | 818 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A582D | c.1745C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace. 2014 24728418 |