Paralogue Annotation for CACNA1C residue 580

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 580
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 580

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP773SBrugada syndromeMedium9 20129283

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CNWLTEVQDTANKALLALFTAEMLLKMYSLG>L<QAYFVSLFNRFDCFVVCGGILETILVETKI610
CACNA1AEWLSDFLYYAEFIFLGLFMSEMFIKMYGLG>T<RPYFHSSFNCFDCGVIIGSIFEVIWAVIKP573
CACNA1BRRLTTTLYFAEFVFLGLFLTEMSLKMYGLG>P<RSYFRSSFNCFDFGVIVGSVFEVVWAAIKP569
CACNA1DDWLTQIQDIANKVLLALFTCEMLVKMYSLG>L<QAYFVSLFNRFDCFVVCGGITETILVELEI629
CACNA1EQWLTHLLYYAEFLFLGLFLLEMSLKMYGMG>P<RLYFHSSFNCFDFGVTVGSIFEVVWAIFRP562
CACNA1FVWLTQIQEYANKVLLCLFTVEMLLKLYGLG>P<SAYVSSFFNRFDCFVVCGGILETTLVEVGA615
CACNA1GEELTNALEISNIVFTSLFALEMLLKLLVYG>P<FGYIKNPYNIFDGVIVVISVWEIVGQQGG-828
CACNA1HEELTNALEISNIVFTSMFALEMLLKLLACG>P<LGYIRNPYNIFDGIIVVISVWEIVGQADG-878
CACNA1IEELTNILEICNVVFTSMFALEMILKLAAFG>L<FDYLRNPYNIFDSIIVIISIWEIVGQADG-725
CACNA1SLWLTRLQDIANRVLLSLFTTEMLMKMYGLG>L<RQYFMSIFNRFDCFVVCSGILEILLVESGA518
SCN10APTFEAMLQIGNIVFTIFFTAEMVFKIIAFD>P<YYYFQKKWNIFDCIIVTVSLLELGVAKKG-750
SCN11AASFEKMLNIGNLVFTSIFIAEMCLKIIALD>P<YHYFRRGWNIFDSIVALLSFADVMNCVLQK663
SCN1ADHFNNVLTVGNLVFTGIFTAEMFLKIIAMD>P<YYYFQEGWNIFDGFIVTLSLVELGLANVE-853
SCN2AEQFSSVLSVGNLVFTGIFTAEMFLKIIAMD>P<YYYFQEGWNIFDGFIVSLSLMELGLANVE-844
SCN3AEQFSSVLTVGNLVFTGIFTAEMVLKIIAMD>P<YYYFQEGWNIFDGIIVSLSLMELGLSNVE-845
SCN4AEHFDNVLTVGNLVFTGIFTAEMVLKLIAMD>P<YEYFQQGWNIFDSIIVTLSLVELGLANVQ-663
SCN5ASEFEEMLQVGNLVFTGIFTAEMTFKIIALD>P<YYYFQQGWNIFDSIIVILSLMELGLSRMS-802
SCN7AKQTNTLLNIGNLVFIGIFTAEMIFKIIAMH>P<YGYFQVGWNIFDSMIVFHGLIELCLANVA-590
SCN8APQFEHVLAVGNLVFTGIFTAEMFLKLIAMD>P<YYYFQEGWNIFDGFIVSLSLMELSLADVE-838
SCN9AEEFKNVLAIGNLVFTGIFAAEMVLKLIAMD>P<YEYFQVGWNIFDSLIVTLSLVELFLADVE-818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 580 for CACNA1C.