Paralogue Annotation for CACNA1C residue 728

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 728
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 728

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AM932LCongenital indifference to painMedium9 21939494, 21698661, 23450472

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.



CACNA1CTVFQILTGEDWNSVMYDGIMAYGGPSFPGM>L<VCIYFIILFICGNYILLNVFLAIAVDNLAD758
CACNA1ATVFQILTGEDWNEVMYDGIKSQGGV-QGGM>V<FSIYFIVLTLFGNYTLLNVFLAIAVDNLAN719
CACNA1BTVFQILTGEDWNAVMYHGIESQGGV-SKGM>F<SSFYFIVLTLFGNYTLLNVFLAIAVDNLAN715
CACNA1DTVFQILTGEDWNAVMYDGIMAYGGPSSSGM>I<VCIYFIILFICGNYILLNVFLAIAVDNLAD777
CACNA1ETVFQILTGEDWNEVMYNGIRSQGGV-SSGM>W<SAIYFIVLTLFGNYTLLNVFLAIAVDNLAN708
CACNA1FTVFQILTGEDWNVVMYDGIMAYGGPFFPGM>L<VCIYFIILFICGNYILLNVFLAIAVDNLAS763
CACNA1GTVFQILTQEDWNKVLYNGMAS-T-S----S>W<AALYFIALMTFGNYVLFNLLVAILVEGFQ-968
CACNA1HTVFQILTQEDWNVVLYNGMAS-T-S----S>W<AALYFVALMTFGNYVLFNLLVAILVEGFQ-1019
CACNA1ITVFQILTQEDWNVVLYNGMAS-T-S----P>W<ASLYFVALMTFGNYVLFNLLVAILVEGFQA867
CACNA1SSVFQVLTGEDWTSMMYNGIMAYGGPSYPGM>L<VCIYFIILFVCGNYILLNVFLAIAVDNLAE666
SCN10AIVFRILCGE-WIENMWACMEV-----GQKS>I<CLILFLTVMVLGNLVVLNLFIALLLNSFS-894
SCN11AVVFRILCGE-WIENMWECMQEAN---ASSS>L<CVIVFILITVIGKLVVLNLFIALLLNSFS-815
SCN1AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLTVFMMVMVIGNLVVLNLFLALLLSSFS-996
SCN2AIVFRVLCGE-WIETMWDCMEV-----AGQT>M<CLTVFMMVMVIGNLVVLNLFLALLLSSFS-987
SCN3AIVFRVLCGE-WIETMWDCMEV-----AGQT>M<CLIVFMLVMVIGNLVVLNLFLALLLSSFS-988
SCN4AIVFRILCGE-WIETMWDCMEV-----AGQA>M<CLTVFLMVMVIGNLVVLNLFLALLLSSFS-806
SCN5AIIFRILCGE-WIETMWDCMEV-----SGQS>L<CLLVFLLVMVIGNLVVLNLFLALLLSSFS-943
SCN7ANVFRILCGE-WVETLWDCMEV-----AGQS>W<CIPFYLMVILIGNLLVLYLFLA-LVSSFS-732
SCN8AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLIVFMMVMVIGNLVVLNLFLALLLSSFS-981
SCN9AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLIVYMMVMVIGNLVVLNLFLALLLSSFS-961
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 728 for CACNA1C.