Paralogue Annotation for CACNA1C residue 637

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 637
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 637

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL876IMyoclonic epilepsy of infancyHigh9 23195492

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.



CACNA1CETKIMSPLGISVLRCVRLLRIFKITRYWNS>L<SNLVASLLNSVRSIASLLLLLFLFIIIFSL667
CACNA1AVIKPGTSFGISVLRALRLLRIFKVTKYWAS>L<RNLVVSLLNSMKSIISLLFLLFLFIVVFAL630
CACNA1BAIKPGSSFGISVLRALRLLRIFKVTKYWSS>L<RNLVVSLLNSMKSIISLLFLLFLFIVVFAL626
CACNA1DELEIMSPLGISVFRCVRLLRIFKVTRHWTS>L<SNLVASLLNSMKSIASLLLLLFLFIIIFSL686
CACNA1EIFRPGTSFGISVLRALRLLRIFKITKYWAS>L<RNLVVSLMSSMKSIISLLFLLFLFIVVFAL619
CACNA1FEVGAMQPLGISVLRCVRLLRIFKVTRHWAS>L<SNLVASLLNSMKSIASLLLLLFLFIIIFSL672
CACNA1GQGG-----GLSVLRTFRLMRVLKLVRFLPA>L<QRQLVVLMKTMDNVATFCMLLMLFIFIFSI881
CACNA1HADG-----GLSVLRTFRLLRVLKLVRFLPA>L<RRQLVVLVKTMDNVATFCTLLMLFIFIFSI931
CACNA1IADG-----GLSVLRTFRLLRVLKLVRFMPA>L<RRQLVVLMKTMDNVATFCMLLMLFIFIFSI778
CACNA1SESGAMTPLGISVLRCIRLLRIFKITKYWTS>L<SNLVASLLNSIRSIASLLLLLFLFIVIFAL575
SCN10AKKG-----SLSVLRSFRLLRVFKLAKSWPT>L<NTLIKIIGNSVGALGNLTIILAIIVFVFAL803
SCN11AVLQKR---SWPFLRSFRVLRVFKLAKSWPT>L<NTLIKIIGNSVGALGSLTVVLVIVIFIFSV717
SCN1ANVE-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV906
SCN2ANVE-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV897
SCN3ANVE-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV898
SCN4ANVQ-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV716
SCN5ARMS-----NLSVLRSFRLLRVFKLAKSWPT>L<NTLIKIIGNSVGALGNLTLVLAIIVFIFAV855
SCN7ANVA-----GMALLRLFRMLRIFKLGKYWPT>F<QILMWSLSNSWVALKDLVLLLFTFIFFSAA643
SCN8ADVE-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV891
SCN9ADVE-----GLSVLRSFRLLRVFKLAKSWPT>L<NMLIKIIGNSVGALGNLTLVLAIIVFIFAV871
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 637 for CACNA1C.