Paralogue Annotation for CACNA1C residue 583

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 583
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 583

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY827DDravet syndromeHigh9 26096185

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.



CACNA1CTEVQDTANKALLALFTAEMLLKMYSLGLQA>Y<FVSLFNRFDCFVVCGGILETILVETKIMSP613
CACNA1ASDFLYYAEFIFLGLFMSEMFIKMYGLGTRP>Y<FHSSFNCFDCGVIIGSIFEVIWAVIKPGTS576
CACNA1BTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS>Y<FRSSFNCFDFGVIVGSVFEVVWAAIKPGSS572
CACNA1DTQIQDIANKVLLALFTCEMLVKMYSLGLQA>Y<FVSLFNRFDCFVVCGGITETILVELEIMSP632
CACNA1ETHLLYYAEFLFLGLFLLEMSLKMYGMGPRL>Y<FHSSFNCFDFGVTVGSIFEVVWAIFRPGTS565
CACNA1FTQIQEYANKVLLCLFTVEMLLKLYGLGPSA>Y<VSSFFNRFDCFVVCGGILETTLVEVGAMQP618
CACNA1GTNALEISNIVFTSLFALEMLLKLLVYGPFG>Y<IKNPYNIFDGVIVVISVWEIVGQQGG----828
CACNA1HTNALEISNIVFTSMFALEMLLKLLACGPLG>Y<IRNPYNIFDGIIVVISVWEIVGQADG----878
CACNA1ITNILEICNVVFTSMFALEMILKLAAFGLFD>Y<LRNPYNIFDSIIVIISIWEIVGQADG----725
CACNA1STRLQDIANRVLLSLFTTEMLMKMYGLGLRQ>Y<FMSIFNRFDCFVVCSGILEILLVESGAMTP521
SCN10AEAMLQIGNIVFTIFFTAEMVFKIIAFDPYY>Y<FQKKWNIFDCIIVTVSLLELGVAKKG----750
SCN11AEKMLNIGNLVFTSIFIAEMCLKIIALDPYH>Y<FRRGWNIFDSIVALLSFADVMNCVLQKR--664
SCN1ANNVLTVGNLVFTGIFTAEMFLKIIAMDPYY>Y<FQEGWNIFDGFIVTLSLVELGLANVE----853
SCN2ASSVLSVGNLVFTGIFTAEMFLKIIAMDPYY>Y<FQEGWNIFDGFIVSLSLMELGLANVE----844
SCN3ASSVLTVGNLVFTGIFTAEMVLKIIAMDPYY>Y<FQEGWNIFDGIIVSLSLMELGLSNVE----845
SCN4ADNVLTVGNLVFTGIFTAEMVLKLIAMDPYE>Y<FQQGWNIFDSIIVTLSLVELGLANVQ----663
SCN5AEEMLQVGNLVFTGIFTAEMTFKIIALDPYY>Y<FQQGWNIFDSIIVILSLMELGLSRMS----802
SCN7ANTLLNIGNLVFIGIFTAEMIFKIIAMHPYG>Y<FQVGWNIFDSMIVFHGLIELCLANVA----590
SCN8AEHVLAVGNLVFTGIFTAEMFLKLIAMDPYY>Y<FQEGWNIFDGFIVSLSLMELSLADVE----838
SCN9AKNVLAIGNLVFTGIFAAEMVLKLIAMDPYE>Y<FQVGWNIFDSLIVTLSLVELFLADVE----818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 583 for CACNA1C.