Paralogue Annotation for CACNA1C residue 654

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 654
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 654

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL858FErythermalgia, primaryHigh9 15955112, 16392115, 21705421, 22365309, 24866741
SCN9AL858HErythermalgia, primaryHigh9 14985375, 15385606, 21115638, 24401712, 16702558
CACNA1AL617VParoxysmal head tremor, adult-onsetHigh9 23696109
SCN4Ap.L703Pparamyotonia congenitaHigh9

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.



CACNA1CLLRIFKITRYWNSLSNLVASLLNSVRSIAS>L<LLLLFLFIIIFSLLGMQLFGGKFNFD-E--681
CACNA1ALLRIFKVTKYWASLRNLVVSLLNSMKSIIS>L<LFLLFLFIVVFALLGMQLFGGQFNFD-E--644
CACNA1BLLRIFKVTKYWSSLRNLVVSLLNSMKSIIS>L<LFLLFLFIVVFALLGMQLFGGQFNFQ-D--640
CACNA1DLLRIFKVTRHWTSLSNLVASLLNSMKSIAS>L<LLLLFLFIIIFSLLGMQLFGGKFNFD-E--700
CACNA1ELLRIFKITKYWASLRNLVVSLMSSMKSIIS>L<LFLLFLFIVVFALLGMQLFGGRFNFN-D--633
CACNA1FLLRIFKVTRHWASLSNLVASLLNSMKSIAS>L<LLLLFLFIIIFSLLGMQLFGGKFNFD-Q--686
CACNA1GLMRVLKLVRFLPALQRQLVVLMKTMDNVAT>F<CMLLMLFIFIFSILGMHLFGCKFASER---895
CACNA1HLLRVLKLVRFLPALRRQLVVLVKTMDNVAT>F<CTLLMLFIFIFSILGMHLFGCKFSLKTD--946
CACNA1ILLRVLKLVRFMPALRRQLVVLMKTMDNVAT>F<CMLLMLFIFIFSILGMHIFGCKFSLRTD--793
CACNA1SLLRIFKITKYWTSLSNLVASLLNSIRSIAS>L<LLLLFLFIVIFALLGMQLFGGRYDFE-D--589
SCN10ALLRVFKLAKSWPTLNTLIKIIGNSVGALGN>L<TIILAIIVFVFALVGKQLLGENYRNN-RKN819
SCN11AVLRVFKLAKSWPTLNTLIKIIGNSVGALGS>L<TVVLVIVIFIFSVVGMQLFGRSFNSQ-KSP733
SCN1ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKDC-VCK922
SCN2ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKEC-VCK913
SCN3ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKEC-VCK914
SCN4ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKEC-VCK732
SCN5ALLRVFKLAKSWPTLNTLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKNYSEL-RDS871
SCN7AMLRIFKLGKYWPTFQILMWSLSNSWVALKD>L<VLLLFTFIFFSAAFGMKLFGKNYEEF-VCH659
SCN8ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKEC-VCK907
SCN9ALLRVFKLAKSWPTLNMLIKIIGNSVGALGN>L<TLVLAIIVFIFAVVGMQLFGKSYKEC-VCK887
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 654 for CACNA1C.