No paralogue variants have been mapped to residue 135 for SCN5A.
SCN5A | FSATNALYVLSPFHPIRRAAVKILVHSLFN>M<LIMCTILTNCVFMAQH------D-PPPWT- | 157 |
SCN1A | FSATSALYILTPFNPLRKIAIKILVHSLFS>M<LIMCTILTNCVFMTMS------N-PPDWT- | 154 |
SCN2A | FSATPALYILTPFNPIRKLAIKILVHSLFN>M<LIMCTILTNCVFMTMS------N-PPDWT- | 155 |
SCN3A | FSATSALYILTPLNPVRKIAIKILVHSLFS>M<LIMCTILTNCVFMTLS------N-PPDWT- | 154 |
SCN4A | FSATPALYLLSPFSVVRRGAIKVLIHALFS>M<FIMITILTNCVFMTMS------D-PPPWS- | 157 |
SCN7A | FNAASILCTLSPFNCIRRTTIKVLVHPFFQ>L<FILISVLIDCVFMSLT------N-LPKWR- | 144 |
SCN8A | FSATPALYILSPFNLIRRIAIKILIHSVFS>M<IIMCTILTNCVFMTFS------N-PPDWS- | 158 |
SCN9A | FNATPALYMLSPFSPLRRISIKILVHSLFS>M<LIMCTILTNCIFMTMN------N-PPDWT- | 152 |
SCN10A | FSATRALWLFSPFNLIRRTAIKVSVHSWFS>L<FITVTILVNCVCMTRT------D-LPE--- | 154 |
SCN11A | FSAKHALFIFGPFNSIRSLAIRVSVHSLFS>M<FIIGTVIINCVFMATGPA-K--NSNSNNT- | 159 |
CACNA1A | LTVNRSLFLFSEDNVVRKYAKKITEWPPFE>Y<MILATIIANCIVLALEQHLPDDDKTPMSER | 132 |
CACNA1B | FTVNRSLFVFSEDNVVRKYAKRITEWPPFE>Y<MILATIIANCIVLALEQHLPDGDKTPMSER | 129 |
CACNA1C | TRPPRALLCLTLKNPIRRACISIVEWKPFE>I<IILLTIFANCVALAIYIPFPEDDSNATNSN | 158 |
CACNA1D | SRPARALFCLSLNNPIRRACISIVEWKPFD>I<FILLAIFANCVALAIYIPFPEDDSNSTNHN | 160 |
CACNA1E | FTVNRSLFIFGEDNIVRKYAKKLIDWPPFE>Y<MILATIIANCIVLALEQHLPEDDKTPMSRR | 123 |
CACNA1F | QRSPRALFCLTLANPLRRSCISIVEWKPFD>I<LILLTIFANCVALGVYIPFPEDDSNTANHN | 126 |
CACNA1G | ALAPVVFFYLSQDSRPRSWCLRTVCNPWFE>R<ISMLVILLNCVTLGMFRPCEDIACDSQRCR | 115 |
CACNA1H | ALAATVFFCLGQTTRPRSWCLRLVCNPWFE>H<VSMLVIMLNCVTLGMFRPCEDVECGSERCN | 134 |
CACNA1I | DLAPIAFFCLRQTTSPRNWCIKMVCNPWFE>C<VSMLVILLNCVTLGMYQPCDDMDCLSDRCK | 113 |
CACNA1S | PRPPRALFCLTLENPLRKACISIVEWKPFE>T<IILLTIFANCVALAVYLPMPEDDNNSLNLG | 85 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M135V | c.403A>G | Putative Benign | SIFT: Polyphen: |