Paralogue Annotation for CACNA1C residue 669

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 669
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 669

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG674DNight blindness, congenital stationary, incompleteHigh9 11281458, 14973233

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.



CACNA1CNLVASLLNSVRSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-E------------MQTRR686
CACNA1ANLVVSLLNSMKSIISLLFLLFLFIVVFALL>G<MQLFGGQFNFD-E------------G-TPP648
CACNA1BNLVVSLLNSMKSIISLLFLLFLFIVVFALL>G<MQLFGGQFNFQ-D------------E-TPT644
CACNA1DNLVASLLNSMKSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-E------------TQTKR705
CACNA1ENLVVSLMSSMKSIISLLFLLFLFIVVFALL>G<MQLFGGRFNFN-D------------G-TPS637
CACNA1FNLVASLLNSMKSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-Q------------THTKR691
CACNA1GRQLVVLMKTMDNVATFCMLLMLFIFIFSIL>G<MHLFGCKFASER---------DG-DTLPDR903
CACNA1HRQLVVLVKTMDNVATFCTLLMLFIFIFSIL>G<MHLFGCKFSLKTD--------TG-DTVPDR954
CACNA1IRQLVVLMKTMDNVATFCMLLMLFIFIFSIL>G<MHIFGCKFSLRTD--------TG-DTVPDR801
CACNA1SNLVASLLNSIRSIASLLLLLFLFIVIFALL>G<MQLFGGRYDFE-D------------TEVRR594
SCN10ATLIKIIGNSVGALGNLTIILAIIVFVFALV>G<KQLLGENYRNN-RKN----I-SAPHEDWPR829
SCN11ATLIKIIGNSVGALGSLTVVLVIVIFIFSVV>G<MQLFGRSFNSQ-KSPKLCNPTGPTVSCLRH748
SCN1AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKDC-VCK----I-AS-DCQLPR931
SCN2AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-SN-DCELPR922
SCN3AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-ND-DCTLPR923
SCN4AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-AL-DCNLPR741
SCN5ATLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKNYSEL-RDS----D-SG---LLPR878
SCN7AILMWSLSNSWVALKDLVLLLFTFIFFSAAF>G<MKLFGKNYEEF-VCH----I-DK-DCQLPR668
SCN8AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-NQ-DCELPR916
SCN9AMLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-ND-DCTLPR896
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 669 for CACNA1C.