No paralogue variants have been mapped to residue 136 for SCN5A.
SCN5A | SATNALYVLSPFHPIRRAAVKILVHSLFNM>L<IMCTILTNCVFMAQH------D-PPPWT-- | 157 |
SCN1A | SATSALYILTPFNPLRKIAIKILVHSLFSM>L<IMCTILTNCVFMTMS------N-PPDWT-- | 154 |
SCN2A | SATPALYILTPFNPIRKLAIKILVHSLFNM>L<IMCTILTNCVFMTMS------N-PPDWT-- | 155 |
SCN3A | SATSALYILTPLNPVRKIAIKILVHSLFSM>L<IMCTILTNCVFMTLS------N-PPDWT-- | 154 |
SCN4A | SATPALYLLSPFSVVRRGAIKVLIHALFSM>F<IMITILTNCVFMTMS------D-PPPWS-- | 157 |
SCN7A | NAASILCTLSPFNCIRRTTIKVLVHPFFQL>F<ILISVLIDCVFMSLT------N-LPKWR-- | 144 |
SCN8A | SATPALYILSPFNLIRRIAIKILIHSVFSM>I<IMCTILTNCVFMTFS------N-PPDWS-- | 158 |
SCN9A | NATPALYMLSPFSPLRRISIKILVHSLFSM>L<IMCTILTNCIFMTMN------N-PPDWT-- | 152 |
SCN10A | SATRALWLFSPFNLIRRTAIKVSVHSWFSL>F<ITVTILVNCVCMTRT------D-LPE---- | 154 |
SCN11A | SAKHALFIFGPFNSIRSLAIRVSVHSLFSM>F<IIGTVIINCVFMATGPA-K--NSNSNNT-- | 159 |
CACNA1A | TVNRSLFLFSEDNVVRKYAKKITEWPPFEY>M<ILATIIANCIVLALEQHLPDDDKTPMSERL | 133 |
CACNA1B | TVNRSLFVFSEDNVVRKYAKRITEWPPFEY>M<ILATIIANCIVLALEQHLPDGDKTPMSERL | 130 |
CACNA1C | RPPRALLCLTLKNPIRRACISIVEWKPFEI>I<ILLTIFANCVALAIYIPFPEDDSNATNSNL | 159 |
CACNA1D | RPARALFCLSLNNPIRRACISIVEWKPFDI>F<ILLAIFANCVALAIYIPFPEDDSNSTNHNL | 161 |
CACNA1E | TVNRSLFIFGEDNIVRKYAKKLIDWPPFEY>M<ILATIIANCIVLALEQHLPEDDKTPMSRRL | 124 |
CACNA1F | RSPRALFCLTLANPLRRSCISIVEWKPFDI>L<ILLTIFANCVALGVYIPFPEDDSNTANHNL | 127 |
CACNA1G | LAPVVFFYLSQDSRPRSWCLRTVCNPWFER>I<SMLVILLNCVTLGMFRPCEDIACDSQRCRI | 116 |
CACNA1H | LAATVFFCLGQTTRPRSWCLRLVCNPWFEH>V<SMLVIMLNCVTLGMFRPCEDVECGSERCNI | 135 |
CACNA1I | LAPIAFFCLRQTTSPRNWCIKMVCNPWFEC>V<SMLVILLNCVTLGMYQPCDDMDCLSDRCKI | 114 |
CACNA1S | RPPRALFCLTLENPLRKACISIVEWKPFET>I<ILLTIFANCVALAVYLPMPEDDNNSLNLGL | 86 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L136P | c.407T>C | Inherited Arrhythmia | BrS | rs199473557 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | BrS | Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. Am J Cardiol. 2007 100(4):649-55. 17697823 | ||
Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |