No paralogue variants have been mapped to residue 595 for CACNA1C.
CACNA1C | ALFTAEMLLKMYSLGLQAYFVSLFNRFDCF>V<VCGGILETILVETKIMSPLGISVLRCVRLL | 625 |
CACNA1A | GLFMSEMFIKMYGLGTRPYFHSSFNCFDCG>V<IIGSIFEVIWAVIKPGTSFGISVLRALRLL | 588 |
CACNA1B | GLFLTEMSLKMYGLGPRSYFRSSFNCFDFG>V<IVGSVFEVVWAAIKPGSSFGISVLRALRLL | 584 |
CACNA1D | ALFTCEMLVKMYSLGLQAYFVSLFNRFDCF>V<VCGGITETILVELEIMSPLGISVFRCVRLL | 644 |
CACNA1E | GLFLLEMSLKMYGMGPRLYFHSSFNCFDFG>V<TVGSIFEVVWAIFRPGTSFGISVLRALRLL | 577 |
CACNA1F | CLFTVEMLLKLYGLGPSAYVSSFFNRFDCF>V<VCGGILETTLVEVGAMQPLGISVLRCVRLL | 630 |
CACNA1G | SLFALEMLLKLLVYGPFGYIKNPYNIFDGV>I<VVISVWEIVGQQGG-----GLSVLRTFRLM | 839 |
CACNA1H | SMFALEMLLKLLACGPLGYIRNPYNIFDGI>I<VVISVWEIVGQADG-----GLSVLRTFRLL | 889 |
CACNA1I | SMFALEMILKLAAFGLFDYLRNPYNIFDSI>I<VIISIWEIVGQADG-----GLSVLRTFRLL | 736 |
CACNA1S | SLFTTEMLMKMYGLGLRQYFMSIFNRFDCF>V<VCSGILEILLVESGAMTPLGISVLRCIRLL | 533 |
SCN10A | IFFTAEMVFKIIAFDPYYYFQKKWNIFDCI>I<VTVSLLELGVAKKG-----SLSVLRSFRLL | 761 |
SCN11A | SIFIAEMCLKIIALDPYHYFRRGWNIFDSI>V<ALLSFADVMNCVLQKR---SWPFLRSFRVL | 675 |
SCN1A | GIFTAEMFLKIIAMDPYYYFQEGWNIFDGF>I<VTLSLVELGLANVE-----GLSVLRSFRLL | 864 |
SCN2A | GIFTAEMFLKIIAMDPYYYFQEGWNIFDGF>I<VSLSLMELGLANVE-----GLSVLRSFRLL | 855 |
SCN3A | GIFTAEMVLKIIAMDPYYYFQEGWNIFDGI>I<VSLSLMELGLSNVE-----GLSVLRSFRLL | 856 |
SCN4A | GIFTAEMVLKLIAMDPYEYFQQGWNIFDSI>I<VTLSLVELGLANVQ-----GLSVLRSFRLL | 674 |
SCN5A | GIFTAEMTFKIIALDPYYYFQQGWNIFDSI>I<VILSLMELGLSRMS-----NLSVLRSFRLL | 813 |
SCN7A | GIFTAEMIFKIIAMHPYGYFQVGWNIFDSM>I<VFHGLIELCLANVA-----GMALLRLFRML | 601 |
SCN8A | GIFTAEMFLKLIAMDPYYYFQEGWNIFDGF>I<VSLSLMELSLADVE-----GLSVLRSFRLL | 849 |
SCN9A | GIFAAEMVLKLIAMDPYEYFQVGWNIFDSL>I<VTLSLVELFLADVE-----GLSVLRSFRLL | 829 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V595I | c.1783G>A | Putative Benign | rs201392574 | SIFT: tolerated Polyphen: benign |