Paralogue Annotation for CACNA1C residue 671

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 671
Reference Amino Acid: Q - Glutamine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 671

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AQ875EErythermalgia, primaryHigh9 22033523, 25575597
SCN1AQ910KDravet syndromeHigh9 24168886

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.



CACNA1CVASLLNSVRSIASLLLLLFLFIIIFSLLGM>Q<LFGGKFNFD-E------------MQTRRST688
CACNA1AVVSLLNSMKSIISLLFLLFLFIVVFALLGM>Q<LFGGQFNFD-E------------G-TPPTN650
CACNA1BVVSLLNSMKSIISLLFLLFLFIVVFALLGM>Q<LFGGQFNFQ-D------------E-TPTTN646
CACNA1DVASLLNSMKSIASLLLLLFLFIIIFSLLGM>Q<LFGGKFNFD-E------------TQTKRST707
CACNA1EVVSLMSSMKSIISLLFLLFLFIVVFALLGM>Q<LFGGRFNFN-D------------G-TPSAN639
CACNA1FVASLLNSMKSIASLLLLLFLFIIIFSLLGM>Q<LFGGKFNFD-Q------------THTKRST693
CACNA1GLVVLMKTMDNVATFCMLLMLFIFIFSILGM>H<LFGCKFASER---------DG-DTLPDRKN905
CACNA1HLVVLVKTMDNVATFCTLLMLFIFIFSILGM>H<LFGCKFSLKTD--------TG-DTVPDRKN956
CACNA1ILVVLMKTMDNVATFCMLLMLFIFIFSILGM>H<IFGCKFSLRTD--------TG-DTVPDRKN803
CACNA1SVASLLNSIRSIASLLLLLFLFIVIFALLGM>Q<LFGGRYDFE-D------------TEVRRSN596
SCN10AIKIIGNSVGALGNLTIILAIIVFVFALVGK>Q<LLGENYRNN-RKN----I-SAPHEDWPRWH831
SCN11AIKIIGNSVGALGSLTVVLVIVIFIFSVVGM>Q<LFGRSFNSQ-KSPKLCNPTGPTVSCLRHWH750
SCN1AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKDC-VCK----I-AS-DCQLPRWH933
SCN2AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKEC-VCK----I-SN-DCELPRWH924
SCN3AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKEC-VCK----I-ND-DCTLPRWH925
SCN4AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKEC-VCK----I-AL-DCNLPRWH743
SCN5AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKNYSEL-RDS----D-SG---LLPRWH880
SCN7AMWSLSNSWVALKDLVLLLFTFIFFSAAFGM>K<LFGKNYEEF-VCH----I-DK-DCQLPRWH670
SCN8AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKEC-VCK----I-NQ-DCELPRWH918
SCN9AIKIIGNSVGALGNLTLVLAIIVFIFAVVGM>Q<LFGKSYKEC-VCK----I-ND-DCTLPRWH898
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 671 for CACNA1C.