Paralogue Annotation for CACNA1C residue 281

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 281
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 281

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AV261MNeonatal-infantile seizuresMedium9 20371507

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.



CACNA1CVPSLQVVLNSIIKAMVPLLHIALLVLFVII>I<YAIIGLELFMGKMHKTCYNQEGIAD-----306
CACNA1AIPSLQVVLKSIMKAMIPLLQIGLLLFFAIL>I<FAIIGLEFYMGKFHTTCFE-E-GTD-----262
CACNA1BIPSLQVVLKSIMKAMVPLLQIGLLLFFAIL>M<FAIIGLEFYMGKFHKACFP-N-STD-----259
CACNA1DVPSLQVVLNSIIKAMVPLLHIALLVLFVII>I<YAIIGLELFIGKMHKTCFF-A-DSD-----307
CACNA1EIPSLQIVLKSIMKAMVPLLQIGLLLFFAIL>M<FAIIGLEFYSGKLHRACFM-N-NSG-----257
CACNA1FVPSLHIVLNSIMKALVPLLHIALLVLFVII>I<YAIIGLELFLGRMHKTCYF-L-GSD-----273
CACNA1GVPSMRILVTLLLDTLPMLGNVLLLCFFVFF>I<FGIVGVQLWAGLLRNRCFL-P-ENFSLPLS252
CACNA1HVPSMRILVTLLLDTLPMLGNVLLLCFFVFF>I<FGIVGVQLWAGLLRNRCFL-D-SAFVRNNN271
CACNA1IVPSMRILVNLLLDTLPMLGNVLLLCFFVFF>I<FGIIGVQLWAGLLRNRCFL-E-ENFTIQGD250
CACNA1SVPSLQVVLNSIFKAMLPLFHIALLVLFMVI>I<YAIIGLELFKGKMHKTCYF-I-GTD-----232
SCN10AIPGLKVIVGALIHSVKKLADVTILTIFCLS>V<FALVGLQLFKGNLKNKCVK-N---------279
SCN11AVSRLKVIVGALLRSVKKLVNVIILTFFCLS>I<FALVGQQLFMGSLNLKCIS-R---------286
SCN1AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCIQ-WP-PTNASLE288
SCN2AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCLQ-WP-PDNSSFE289
SCN3AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCLQ-WP-PSDSAFE288
SCN4AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALVGLQLFMGNLRQKCVR-WP-PPFN--D289
SCN5AIPGLKTIVGALIQSVKKLADVMVLTVFCLS>V<FALIGLQLFMGNLRHKCVR-----------282
SCN7ANQGLKSLVGVLIHCLKQLIGVIILTLFFLS>I<FSLIGMGLFMGNLKHKCFR-WP-QENE---275
SCN8AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCVV-WP--------285
SCN9AIPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLKHKCFR-NS--------279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 281 for CACNA1C.