Paralogue Annotation for CACNA1C residue 595

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 595
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 595

No paralogue variants have been mapped to residue 595 for CACNA1C.



CACNA1CALFTAEMLLKMYSLGLQAYFVSLFNRFDCF>V<VCGGILETILVETKIMSPLGISVLRCVRLL625
CACNA1AGLFMSEMFIKMYGLGTRPYFHSSFNCFDCG>V<IIGSIFEVIWAVIKPGTSFGISVLRALRLL588
CACNA1BGLFLTEMSLKMYGLGPRSYFRSSFNCFDFG>V<IVGSVFEVVWAAIKPGSSFGISVLRALRLL584
CACNA1DALFTCEMLVKMYSLGLQAYFVSLFNRFDCF>V<VCGGITETILVELEIMSPLGISVFRCVRLL644
CACNA1EGLFLLEMSLKMYGMGPRLYFHSSFNCFDFG>V<TVGSIFEVVWAIFRPGTSFGISVLRALRLL577
CACNA1FCLFTVEMLLKLYGLGPSAYVSSFFNRFDCF>V<VCGGILETTLVEVGAMQPLGISVLRCVRLL630
CACNA1GSLFALEMLLKLLVYGPFGYIKNPYNIFDGV>I<VVISVWEIVGQQGG-----GLSVLRTFRLM839
CACNA1HSMFALEMLLKLLACGPLGYIRNPYNIFDGI>I<VVISVWEIVGQADG-----GLSVLRTFRLL889
CACNA1ISMFALEMILKLAAFGLFDYLRNPYNIFDSI>I<VIISIWEIVGQADG-----GLSVLRTFRLL736
CACNA1SSLFTTEMLMKMYGLGLRQYFMSIFNRFDCF>V<VCSGILEILLVESGAMTPLGISVLRCIRLL533
SCN10AIFFTAEMVFKIIAFDPYYYFQKKWNIFDCI>I<VTVSLLELGVAKKG-----SLSVLRSFRLL761
SCN11ASIFIAEMCLKIIALDPYHYFRRGWNIFDSI>V<ALLSFADVMNCVLQKR---SWPFLRSFRVL675
SCN1AGIFTAEMFLKIIAMDPYYYFQEGWNIFDGF>I<VTLSLVELGLANVE-----GLSVLRSFRLL864
SCN2AGIFTAEMFLKIIAMDPYYYFQEGWNIFDGF>I<VSLSLMELGLANVE-----GLSVLRSFRLL855
SCN3AGIFTAEMVLKIIAMDPYYYFQEGWNIFDGI>I<VSLSLMELGLSNVE-----GLSVLRSFRLL856
SCN4AGIFTAEMVLKLIAMDPYEYFQQGWNIFDSI>I<VTLSLVELGLANVQ-----GLSVLRSFRLL674
SCN5AGIFTAEMTFKIIALDPYYYFQQGWNIFDSI>I<VILSLMELGLSRMS-----NLSVLRSFRLL813
SCN7AGIFTAEMIFKIIAMHPYGYFQVGWNIFDSM>I<VFHGLIELCLANVA-----GMALLRLFRML601
SCN8AGIFTAEMFLKLIAMDPYYYFQEGWNIFDGF>I<VSLSLMELSLADVE-----GLSVLRSFRLL849
SCN9AGIFAAEMVLKLIAMDPYEYFQVGWNIFDSL>I<VTLSLVELFLADVE-----GLSVLRSFRLL829
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V595Ic.1783G>A Putative BenignSIFT: tolerated
Polyphen: benign