Paralogue Annotation for CACNA1C residue 1565

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1565
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1565

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AF1689LPainful peripheral neuropathyMedium8 24776970

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.



CACNA1CHRVACKRLVSMNMPLNSDG-TVMFNATLFA>L<VRTALRIKTEG---NLEQANEELRAIIKKI1592
CACNA1AHRVACKRLLRMDLPVADD-NTVHFNSTLMA>L<IRTALDIKIAKGGADKQQMDAELRKEMMAI1930
CACNA1BARVAYKRLVRMNMPISNEDMTVHFTSTLMA>L<IRTALEIKLAPAGTKQHQCDAELRKEISVV1829
CACNA1DHRVACKRLVAMNMPLNSDG-TVMFNATLFA>L<VRTALKIKTEG---NLEQANEELRAVIKKI1600
CACNA1ESKVAYKRLVLMNMPVAED-MTVHFTSTLMA>L<IRTALDIKIAKGGADRQQLDSELQKETLAI1842
CACNA1FHRVACKRLVAMNMPLNSDG-TVTFNATLFA>L<VRTSLKIKTEG---NLEQANQELRIVIKKI1557
CACNA1GGAL---------HPAAHA-RSASHFSLEHP>T<DRQLFDTI---S--LLIQGSLEWELKLMDE1952
CACNA1H-AR--------DAPN--------------->L<VARKV----------------SVSRML-SL1927
CACNA1I-EG---GLCRRCYSPAQE-N--LWLDSVSL>I<IKDSL----------------EGELTIIDN1823
CACNA1SHRVACKRLVGMNMPLNSDG-TVTFNATLFA>L<VRTALKIKTEG---NFEQANEELRAIIKKI1497
SCN10ANRN---ILIQMDLPLVPGD-KIHCLDILFA>F<TKNVLGES--G---ELDSLKANMEEKFMA-1831
SCN11ANKY---QFLVMDLPMVSED-RLHCMDILFA>F<TARVLGGS--D---GLDSMKAMMEEKFME-1713
SCN1ANKL---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEERFMA-1895
SCN2ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEERFMA-1885
SCN3ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEDRFMA-1880
SCN4ANKI---KLITLDLPMVPGD-KIHCLDILFA>L<TKEVLGDS--G---EMDALKQTMEEKFMA-1707
SCN5ANQI---SLINMDLPMVSGD-RIHCMDILFA>F<TKRVLGES--G---EMDALKIQMEEKFMA-1881
SCN7ANKG---QLIALDLPMAVGD-RIHCLDILLA>F<TKRVMGQD--V---RMEKVVSEIESGFLL-1605
SCN8ANTI---ELIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGDS--G---ELDILRQQMEERFVA-1875
SCN9ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDSLRSQMEERFMS-1858
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1565 for CACNA1C.