Paralogue Annotation for CACNA1C residue 604

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 604
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 604

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG797VLong QT syndromeMedium5 26669661

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.



CACNA1CKMYSLGLQAYFVSLFNRFDCFVVCGGILET>I<LVETKIMSPLGISVLRCVRLLRIFKITRYW634
CACNA1AKMYGLGTRPYFHSSFNCFDCGVIIGSIFEV>I<WAVIKPGTSFGISVLRALRLLRIFKVTKYW597
CACNA1BKMYGLGPRSYFRSSFNCFDFGVIVGSVFEV>V<WAAIKPGSSFGISVLRALRLLRIFKVTKYW593
CACNA1DKMYSLGLQAYFVSLFNRFDCFVVCGGITET>I<LVELEIMSPLGISVFRCVRLLRIFKVTRHW653
CACNA1EKMYGMGPRLYFHSSFNCFDFGVTVGSIFEV>V<WAIFRPGTSFGISVLRALRLLRIFKITKYW586
CACNA1FKLYGLGPSAYVSSFFNRFDCFVVCGGILET>T<LVEVGAMQPLGISVLRCVRLLRIFKVTRHW639
CACNA1GKLLVYGPFGYIKNPYNIFDGVIVVISVWEI>V<GQQGG-----GLSVLRTFRLMRVLKLVRFL848
CACNA1HKLLACGPLGYIRNPYNIFDGIIVVISVWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFL898
CACNA1IKLAAFGLFDYLRNPYNIFDSIIVIISIWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFM745
CACNA1SKMYGLGLRQYFMSIFNRFDCFVVCSGILEI>L<LVESGAMTPLGISVLRCIRLLRIFKITKYW542
SCN10AKIIAFDPYYYFQKKWNIFDCIIVTVSLLEL>G<VAKKG-----SLSVLRSFRLLRVFKLAKSW770
SCN11AKIIALDPYHYFRRGWNIFDSIVALLSFADV>M<NCVLQKR---SWPFLRSFRVLRVFKLAKSW684
SCN1AKIIAMDPYYYFQEGWNIFDGFIVTLSLVEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW873
SCN2AKIIAMDPYYYFQEGWNIFDGFIVSLSLMEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW864
SCN3AKIIAMDPYYYFQEGWNIFDGIIVSLSLMEL>G<LSNVE-----GLSVLRSFRLLRVFKLAKSW865
SCN4AKLIAMDPYEYFQQGWNIFDSIIVTLSLVEL>G<LANVQ-----GLSVLRSFRLLRVFKLAKSW683
SCN5AKIIALDPYYYFQQGWNIFDSIIVILSLMEL>G<LSRMS-----NLSVLRSFRLLRVFKLAKSW822
SCN7AKIIAMHPYGYFQVGWNIFDSMIVFHGLIEL>C<LANVA-----GMALLRLFRMLRIFKLGKYW610
SCN8AKLIAMDPYYYFQEGWNIFDGFIVSLSLMEL>S<LADVE-----GLSVLRSFRLLRVFKLAKSW858
SCN9AKLIAMDPYEYFQVGWNIFDSLIVTLSLVEL>F<LADVE-----GLSVLRSFRLLRVFKLAKSW838
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 604 for CACNA1C.