Paralogue Annotation for CACNA1C residue 1370

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1370
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1370

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1667ILong QT syndromeMedium9 11274952

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.



CACNA1CLSRGEGIRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQVFGKIALND---TTE-----1392
CACNA1ALRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIGIDVEDEDSDEDEFQ1732
CACNA1BLRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIALDD---DTS-----1632
CACNA1DLSRGEGIRTLLWTFIKSFQALPYVALLIAM>L<FFIYAVIGMQMFGKVAMRD---NNQ-----1402
CACNA1ELRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIKLDE---ESH-----1639
CACNA1FLSKGEGIRTLLWTFIKSFQALPYVALLIAM>I<FFIYAVIGMQMFGKVALQD---GTQ-----1359
CACNA1GLKMAVGMRALLDTVMQALPQVGNLGLLFML>L<FFIFAALGVELFGDLECDET---HP--CEG1778
CACNA1HLKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGRLECSED---NP--CEG1784
CACNA1ILKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGKLVCNDE---NP--CEG1654
CACNA1SLSRAEGVRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQMFGKIALVD---GTQ-----1299
SCN10AIRAAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSSFPHVRW-----EAG-----1637
SCN11AVRAARGIRTLLFALMMSLPSLFNIGLLLFL>I<MFIYAILGMNWFSKVNP-----ESG-----1527
SCN1AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG-----1700
SCN2AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG-----1690
SCN3AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EAG-----1685
SCN4AIRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSNFAYVKK-----ESG-----1512
SCN5AIRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMANFAYVKW-----EAG-----1687
SCN7AGKGPKVFHNLMLPLMLSLPALLNIILLIFL>V<MFIYAVFGMYNFAYVKK-----EAG-----1410
SCN8AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIFSIFGMSNFAYVKH-----EAG-----1681
SCN9AVKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EDG-----1663
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1370 for CACNA1C.