Paralogue Annotation for CACNA1C residue 607

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 607
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 607

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HA876TIdiopathic epilepsy, generalisedMedium6 17696120
SCN5AR800LLong QT syndromeMedium6 23376825

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.



CACNA1CSLGLQAYFVSLFNRFDCFVVCGGILETILV>E<TKIMSPLGISVLRCVRLLRIFKITRYWNSL637
CACNA1AGLGTRPYFHSSFNCFDCGVIIGSIFEVIWA>V<IKPGTSFGISVLRALRLLRIFKVTKYWASL600
CACNA1BGLGPRSYFRSSFNCFDFGVIVGSVFEVVWA>A<IKPGSSFGISVLRALRLLRIFKVTKYWSSL596
CACNA1DSLGLQAYFVSLFNRFDCFVVCGGITETILV>E<LEIMSPLGISVFRCVRLLRIFKVTRHWTSL656
CACNA1EGMGPRLYFHSSFNCFDFGVTVGSIFEVVWA>I<FRPGTSFGISVLRALRLLRIFKITKYWASL589
CACNA1FGLGPSAYVSSFFNRFDCFVVCGGILETTLV>E<VGAMQPLGISVLRCVRLLRIFKVTRHWASL642
CACNA1GVYGPFGYIKNPYNIFDGVIVVISVWEIVGQ>Q<GG-----GLSVLRTFRLMRVLKLVRFLPAL851
CACNA1HACGPLGYIRNPYNIFDGIIVVISVWEIVGQ>A<DG-----GLSVLRTFRLLRVLKLVRFLPAL901
CACNA1IAFGLFDYLRNPYNIFDSIIVIISIWEIVGQ>A<DG-----GLSVLRTFRLLRVLKLVRFMPAL748
CACNA1SGLGLRQYFMSIFNRFDCFVVCSGILEILLV>E<SGAMTPLGISVLRCIRLLRIFKITKYWTSL545
SCN10AAFDPYYYFQKKWNIFDCIIVTVSLLELGVA>K<KG-----SLSVLRSFRLLRVFKLAKSWPTL773
SCN11AALDPYHYFRRGWNIFDSIVALLSFADVMNC>V<LQKR---SWPFLRSFRVLRVFKLAKSWPTL687
SCN1AAMDPYYYFQEGWNIFDGFIVTLSLVELGLA>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL876
SCN2AAMDPYYYFQEGWNIFDGFIVSLSLMELGLA>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL867
SCN3AAMDPYYYFQEGWNIFDGIIVSLSLMELGLS>N<VE-----GLSVLRSFRLLRVFKLAKSWPTL868
SCN4AAMDPYEYFQQGWNIFDSIIVTLSLVELGLA>N<VQ-----GLSVLRSFRLLRVFKLAKSWPTL686
SCN5AALDPYYYFQQGWNIFDSIIVILSLMELGLS>R<MS-----NLSVLRSFRLLRVFKLAKSWPTL825
SCN7AAMHPYGYFQVGWNIFDSMIVFHGLIELCLA>N<VA-----GMALLRLFRMLRIFKLGKYWPTF613
SCN8AAMDPYYYFQEGWNIFDGFIVSLSLMELSLA>D<VE-----GLSVLRSFRLLRVFKLAKSWPTL861
SCN9AAMDPYEYFQVGWNIFDSLIVTLSLVELFLA>D<VE-----GLSVLRSFRLLRVFKLAKSWPTL841
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 607 for CACNA1C.