Paralogue Annotation for CACNA1C residue 582

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 582
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 582

No paralogue variants have been mapped to residue 582 for CACNA1C.



CACNA1CLTEVQDTANKALLALFTAEMLLKMYSLGLQ>A<YFVSLFNRFDCFVVCGGILETILVETKIMS612
CACNA1ALSDFLYYAEFIFLGLFMSEMFIKMYGLGTR>P<YFHSSFNCFDCGVIIGSIFEVIWAVIKPGT575
CACNA1BLTTTLYFAEFVFLGLFLTEMSLKMYGLGPR>S<YFRSSFNCFDFGVIVGSVFEVVWAAIKPGS571
CACNA1DLTQIQDIANKVLLALFTCEMLVKMYSLGLQ>A<YFVSLFNRFDCFVVCGGITETILVELEIMS631
CACNA1ELTHLLYYAEFLFLGLFLLEMSLKMYGMGPR>L<YFHSSFNCFDFGVTVGSIFEVVWAIFRPGT564
CACNA1FLTQIQEYANKVLLCLFTVEMLLKLYGLGPS>A<YVSSFFNRFDCFVVCGGILETTLVEVGAMQ617
CACNA1GLTNALEISNIVFTSLFALEMLLKLLVYGPF>G<YIKNPYNIFDGVIVVISVWEIVGQQGG---828
CACNA1HLTNALEISNIVFTSMFALEMLLKLLACGPL>G<YIRNPYNIFDGIIVVISVWEIVGQADG---878
CACNA1ILTNILEICNVVFTSMFALEMILKLAAFGLF>D<YLRNPYNIFDSIIVIISIWEIVGQADG---725
CACNA1SLTRLQDIANRVLLSLFTTEMLMKMYGLGLR>Q<YFMSIFNRFDCFVVCSGILEILLVESGAMT520
SCN10AFEAMLQIGNIVFTIFFTAEMVFKIIAFDPY>Y<YFQKKWNIFDCIIVTVSLLELGVAKKG---750
SCN11AFEKMLNIGNLVFTSIFIAEMCLKIIALDPY>H<YFRRGWNIFDSIVALLSFADVMNCVLQKR-664
SCN1AFNNVLTVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVTLSLVELGLANVE---853
SCN2AFSSVLSVGNLVFTGIFTAEMFLKIIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELGLANVE---844
SCN3AFSSVLTVGNLVFTGIFTAEMVLKIIAMDPY>Y<YFQEGWNIFDGIIVSLSLMELGLSNVE---845
SCN4AFDNVLTVGNLVFTGIFTAEMVLKLIAMDPY>E<YFQQGWNIFDSIIVTLSLVELGLANVQ---663
SCN5AFEEMLQVGNLVFTGIFTAEMTFKIIALDPY>Y<YFQQGWNIFDSIIVILSLMELGLSRMS---802
SCN7ATNTLLNIGNLVFIGIFTAEMIFKIIAMHPY>G<YFQVGWNIFDSMIVFHGLIELCLANVA---590
SCN8AFEHVLAVGNLVFTGIFTAEMFLKLIAMDPY>Y<YFQEGWNIFDGFIVSLSLMELSLADVE---838
SCN9AFKNVLAIGNLVFTGIFAAEMVLKLIAMDPY>E<YFQVGWNIFDSLIVTLSLVELFLADVE---818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A582Dc.1745C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace. 2014 24728418