Paralogue Annotation for CACNA1C residue 688

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 688
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 688

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH933PDravet syndrome C ?Medium9 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.



CACNA1CQLFGGKFNFD-E------------MQTRRS>T<FDNFPQSLLTVFQILTGEDWNSVMYDGIMA718
CACNA1AQLFGGQFNFD-E------------G-TPPT>N<FDTFPAAIMTVFQILTGEDWNEVMYDGIKS680
CACNA1BQLFGGQFNFQ-D------------E-TPTT>N<FDTFPAAILTVFQILTGEDWNAVMYHGIES676
CACNA1DQLFGGKFNFD-E------------TQTKRS>T<FDNFPQALLTVFQILTGEDWNAVMYDGIMA737
CACNA1EQLFGGRFNFN-D------------G-TPSA>N<FDTFPAAIMTVFQILTGEDWNEVMYNGIRS669
CACNA1FQLFGGKFNFD-Q------------THTKRS>T<FDTFPQALLTVFQILTGEDWNVVMYDGIMA723
CACNA1GHLFGCKFASER---------DG-DTLPDRK>N<FDSLLWAIVTVFQILTQEDWNKVLYNGMAS935
CACNA1HHLFGCKFSLKTD--------TG-DTVPDRK>N<FDSLLWAIVTVFQILTQEDWNVVLYNGMAS986
CACNA1IHIFGCKFSLRTD--------TG-DTVPDRK>N<FDSLLWAIVTVFQILTQEDWNVVLYNGMAS833
CACNA1SQLFGGRYDFE-D------------TEVRRS>N<FDNFPQALISVFQVLTGEDWTSMMYNGIMA626
SCN10AQLLGENYRNN-RKN----I-SAPHEDWPRW>H<MHDFFHSFLIVFRILCGE-WIENMWACMEV860
SCN11AQLFGRSFNSQ-KSPKLCNPTGPTVSCLRHW>H<MGDFWHSFLVVFRILCGE-WIENMWECMQE779
SCN1AQLFGKSYKDC-VCK----I-AS-DCQLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV962
SCN2AQLFGKSYKEC-VCK----I-SN-DCELPRW>H<MHDFFHSFLIVFRVLCGE-WIETMWDCMEV953
SCN3AQLFGKSYKEC-VCK----I-ND-DCTLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV954
SCN4AQLFGKSYKEC-VCK----I-AL-DCNLPRW>H<MHDFFHSFLIVFRILCGE-WIETMWDCMEV772
SCN5AQLFGKNYSEL-RDS----D-SG---LLPRW>H<MMDFFHAFLIIFRILCGE-WIETMWDCMEV909
SCN7AKLFGKNYEEF-VCH----I-DK-DCQLPRW>H<MHDFFHSFLNVFRILCGE-WVETLWDCMEV699
SCN8AQLFGKSYKEC-VCK----I-NQ-DCELPRW>H<MHDFFHSFLIVFRVLCGE-WIETMWDCMEV947
SCN9AQLFGKSYKEC-VCK----I-ND-DCTLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV927
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 688 for CACNA1C.