Paralogue Annotation for CACNA1C residue 64

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 64
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 64

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI68TDravet syndrome B ?Low2 21248271

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.



CACNA1C----PEH--IPTPGAALSWQAAIDAARQAK>L<MGSAGNATISTVSST-QRKRQQYG-KPKKQ92
CACNA1A-GGRGAG--GSRQGGQ--------PGA--->-<-------QRMYKQSMAQRARTMAL-YNPIP66
CACNA1B-GAGGAG--GPGPGGLQ-------PGQ--->-<-------RVLYKQSIAQRARTMAL-YNPIP63
CACNA1D----PTSQPNSSKQTVLSWQAAIDAARQAK>A<AQTMSTSAPPPVGSLSQRKRQQYA-KSKKQ94
CACNA1E-SRNRQG--TPVPA----------SGQ--->-<-------AAAYKQTKAQRARTMAL-YNPIP57
CACNA1F----PEWGLCPGP----P-------AV--->-<----EGESSGASGLGTPKRRNQHS-KHKTV60
CACNA1G----LSG--AGGRP-----------G---->-<------PGSA-------EKDPG-SADSEAE49
CACNA1H----ELG--VSPSE-----------S---->-<------P-AA-------ERGAELG-ADEEQ68
CACNA1I----QPG--P--RS--P-------PS---->-<------SPPG-------LEEPL-D-G-ADP47
CACNA1S------------------------------>-<-------------SSPQDEGLRKK-QPKKP19
SCN10AE-QKDQE--EKPRPQLDLKACNQLPKFYGE>L<PAELIGEPLEDLDPFYSTHR-TFM-VLNKG98
SCN11AD-QTGEV--PQPRPQLDLKASRKLPKLYGD>I<PRELIGKPLEDLDPFYRNHK-TFM-VLNRK97
SCN1AK-KDDDE--NGPKPNSDLEAGKNLPFIYGD>I<PPEMVSEPLEDLDPYYINKK-TFI-VLNKG96
SCN2ARKDEDDE--NGPKPNSDLEAGKSLPFIYGD>I<PPEMVSVPLEDLDPYYINKK-TFI-VLNKG97
SCN3AQ-DNDDE--NKPKPNSDLEAGKNLPFIYGD>I<PPEMVSEPLEDLDPYYINKK-TFI-VMNKG96
SCN4AQ-MEIEE--PERKPRSDLEAGKNLPMIYGD>P<PPEVIGIPLEDLDPYYSNKK-TFI-VLNKG99
SCN5AE-GLPEE--EAPRPQLDLQASKKLPDLYGN>P<PQELIGEPLEDLDPFYSTQK-TFI-VLNKG99
SCN7AN-EDHEE--EDLKPTPDLEVGKKLPFIYGN>L<SQGMVSEPLEDVDPYYYKKKNTFI-VLNKN86
SCN8AR-EDDED--SKPKPNSDLEAGKSLPFIYGD>I<PQGLVAVPLEDFDPYYLTQK-TFV-VLNRG100
SCN9AK-KDDDE--EAPKPSSDLEAGKQLPFIYGD>I<PPGMVSEPLEDLDPYYADKK-TFI-VLNKG94
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 64 for CACNA1C.