No paralogue variants have been mapped to residue 92 for CACNA1C.
CACNA1C | LMGSAGNATISTVSST-QRKRQQYG-KPKK>Q<GSTTATRPPRALLCLTLKNPIRRACISIVE | 122 |
CACNA1A | --------QRMYKQSMAQRARTMAL-YNPI>P<VRQNCLTVNRSLFLFSEDNVVRKYAKKITE | 96 |
CACNA1B | --------RVLYKQSIAQRARTMAL-YNPI>P<VKQNCFTVNRSLFVFSEDNVVRKYAKRITE | 93 |
CACNA1D | AAQTMSTSAPPPVGSLSQRKRQQYA-KSKK>Q<GNSSNSRPARALFCLSLNNPIRRACISIVE | 124 |
CACNA1E | --------AAAYKQTKAQRARTMAL-YNPI>P<VRQNCFTVNRSLFIFGEDNIVRKYAKKLID | 87 |
CACNA1F | -----EGESSGASGLGTPKRRNQHS-KHKT>V<AVASAQRSPRALFCLTLANPLRRSCISIVE | 90 |
CACNA1G | -------PGSA-------EKDPG-SADSEA>E<GLPYPALAPVVFFYLSQDSRPRSWCLRTVC | 79 |
CACNA1H | -------P-AA-------ERGAELG-ADEE>Q<RVPYPALAATVFFCLGQTTRPRSWCLRLVC | 98 |
CACNA1I | -------SPPG-------LEEPL-D-G-AD>P<HVPHPDLAPIAFFCLRQTTSPRNWCIKMVC | 77 |
CACNA1S | --------------SSPQDEGLRKK-QPKK>P<VPEILPRPPRALFCLTLENPLRKACISIVE | 49 |
SCN10A | LPAELIGEPLEDLDPFYSTHR-TFM-VLNK>G<RTISRFSATRALWLFSPFNLIRRTAIKVSV | 128 |
SCN11A | IPRELIGKPLEDLDPFYRNHK-TFM-VLNR>K<RTIYRFSAKHALFIFGPFNSIRSLAIRVSV | 127 |
SCN1A | IPPEMVSEPLEDLDPYYINKK-TFI-VLNK>G<KAIFRFSATSALYILTPFNPLRKIAIKILV | 126 |
SCN2A | IPPEMVSVPLEDLDPYYINKK-TFI-VLNK>G<KAISRFSATPALYILTPFNPIRKLAIKILV | 127 |
SCN3A | IPPEMVSEPLEDLDPYYINKK-TFI-VMNK>G<KAIFRFSATSALYILTPLNPVRKIAIKILV | 126 |
SCN4A | PPPEVIGIPLEDLDPYYSNKK-TFI-VLNK>G<KAIFRFSATPALYLLSPFSVVRRGAIKVLI | 129 |
SCN5A | PPQELIGEPLEDLDPFYSTQK-TFI-VLNK>G<KTIFRFSATNALYVLSPFHPIRRAAVKILV | 129 |
SCN7A | LSQGMVSEPLEDVDPYYYKKKNTFI-VLNK>N<RTIFRFNAASILCTLSPFNCIRRTTIKVLV | 116 |
SCN8A | IPQGLVAVPLEDFDPYYLTQK-TFV-VLNR>G<KTLFRFSATPALYILSPFNLIRRIAIKILI | 130 |
SCN9A | IPPGMVSEPLEDLDPYYADKK-TFI-VLNK>G<KTIFRFNATPALYMLSPFSPLRRISIKILV | 124 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q92P | c.275A>C | Putative Benign | SIFT: Polyphen: |