No paralogue variants have been mapped to residue 133 for CACNA1C.
CACNA1C | ALLCLTLKNPIRRACISIVEWKPFEIIILL>T<IFANCVALAIYIPFPEDDSNATNSNLERVE | 163 |
CACNA1A | SLFLFSEDNVVRKYAKKITEWPPFEYMILA>T<IIANCIVLALEQHLPDDDKTPMSERLDDTE | 137 |
CACNA1B | SLFVFSEDNVVRKYAKRITEWPPFEYMILA>T<IIANCIVLALEQHLPDGDKTPMSERLDDTE | 134 |
CACNA1D | ALFCLSLNNPIRRACISIVEWKPFDIFILL>A<IFANCVALAIYIPFPEDDSNSTNHNLEKVE | 165 |
CACNA1E | SLFIFGEDNIVRKYAKKLIDWPPFEYMILA>T<IIANCIVLALEQHLPEDDKTPMSRRLEKTE | 128 |
CACNA1F | ALFCLTLANPLRRSCISIVEWKPFDILILL>T<IFANCVALGVYIPFPEDDSNTANHNLEQVE | 131 |
CACNA1G | VFFYLSQDSRPRSWCLRTVCNPWFERISML>V<ILLNCVTLGMFRPCEDIACDSQRCRILQAF | 120 |
CACNA1H | VFFCLGQTTRPRSWCLRLVCNPWFEHVSML>V<IMLNCVTLGMFRPCEDVECGSERCNILEAF | 139 |
CACNA1I | AFFCLRQTTSPRNWCIKMVCNPWFECVSML>V<ILLNCVTLGMYQPCDDMDCLSDRCKILQVF | 118 |
CACNA1S | ALFCLTLENPLRKACISIVEWKPFETIILL>T<IFANCVALAVYLPMPEDDNNSLNLGLEKLE | 90 |
SCN10A | ALWLFSPFNLIRRTAIKVSVHSWFSLFITV>T<ILVNCVCMTRT------D-LPE-----KIE | 157 |
SCN11A | ALFIFGPFNSIRSLAIRVSVHSLFSMFIIG>T<VIINCVFMATGPA-K--NSNSNNT--DIAE | 163 |
SCN1A | ALYILTPFNPLRKIAIKILVHSLFSMLIMC>T<ILTNCVFMTMS------N-PPDWT--KNVE | 158 |
SCN2A | ALYILTPFNPIRKLAIKILVHSLFNMLIMC>T<ILTNCVFMTMS------N-PPDWT--KNVE | 159 |
SCN3A | ALYILTPLNPVRKIAIKILVHSLFSMLIMC>T<ILTNCVFMTLS------N-PPDWT--KNVE | 158 |
SCN4A | ALYLLSPFSVVRRGAIKVLIHALFSMFIMI>T<ILTNCVFMTMS------D-PPPWS--KNVE | 161 |
SCN5A | ALYVLSPFHPIRRAAVKILVHSLFNMLIMC>T<ILTNCVFMAQH------D-PPPWT--KYVE | 161 |
SCN7A | ILCTLSPFNCIRRTTIKVLVHPFFQLFILI>S<VLIDCVFMSLT------N-LPKWR--PVLE | 148 |
SCN8A | ALYILSPFNLIRRIAIKILIHSVFSMIIMC>T<ILTNCVFMTFS------N-PPDWS--KNVE | 162 |
SCN9A | ALYMLSPFSPLRRISIKILVHSLFSMLIMC>T<ILTNCIFMTMN------N-PPDWT--KNVE | 156 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T133S | c.397A>T | Putative Benign | SIFT: Polyphen: |