Paralogue Annotation for SCN5A residue 136

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 136
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 136

No paralogue variants have been mapped to residue 136 for SCN5A.



SCN5ASATNALYVLSPFHPIRRAAVKILVHSLFNM>L<IMCTILTNCVFMAQH------D-PPPWT--157
SCN1ASATSALYILTPFNPLRKIAIKILVHSLFSM>L<IMCTILTNCVFMTMS------N-PPDWT--154
SCN2ASATPALYILTPFNPIRKLAIKILVHSLFNM>L<IMCTILTNCVFMTMS------N-PPDWT--155
SCN3ASATSALYILTPLNPVRKIAIKILVHSLFSM>L<IMCTILTNCVFMTLS------N-PPDWT--154
SCN4ASATPALYLLSPFSVVRRGAIKVLIHALFSM>F<IMITILTNCVFMTMS------D-PPPWS--157
SCN7ANAASILCTLSPFNCIRRTTIKVLVHPFFQL>F<ILISVLIDCVFMSLT------N-LPKWR--144
SCN8ASATPALYILSPFNLIRRIAIKILIHSVFSM>I<IMCTILTNCVFMTFS------N-PPDWS--158
SCN9ANATPALYMLSPFSPLRRISIKILVHSLFSM>L<IMCTILTNCIFMTMN------N-PPDWT--152
SCN10ASATRALWLFSPFNLIRRTAIKVSVHSWFSL>F<ITVTILVNCVCMTRT------D-LPE----154
SCN11ASAKHALFIFGPFNSIRSLAIRVSVHSLFSM>F<IIGTVIINCVFMATGPA-K--NSNSNNT--159
CACNA1ATVNRSLFLFSEDNVVRKYAKKITEWPPFEY>M<ILATIIANCIVLALEQHLPDDDKTPMSERL133
CACNA1BTVNRSLFVFSEDNVVRKYAKRITEWPPFEY>M<ILATIIANCIVLALEQHLPDGDKTPMSERL130
CACNA1CRPPRALLCLTLKNPIRRACISIVEWKPFEI>I<ILLTIFANCVALAIYIPFPEDDSNATNSNL159
CACNA1DRPARALFCLSLNNPIRRACISIVEWKPFDI>F<ILLAIFANCVALAIYIPFPEDDSNSTNHNL161
CACNA1ETVNRSLFIFGEDNIVRKYAKKLIDWPPFEY>M<ILATIIANCIVLALEQHLPEDDKTPMSRRL124
CACNA1FRSPRALFCLTLANPLRRSCISIVEWKPFDI>L<ILLTIFANCVALGVYIPFPEDDSNTANHNL127
CACNA1GLAPVVFFYLSQDSRPRSWCLRTVCNPWFER>I<SMLVILLNCVTLGMFRPCEDIACDSQRCRI116
CACNA1HLAATVFFCLGQTTRPRSWCLRLVCNPWFEH>V<SMLVIMLNCVTLGMFRPCEDVECGSERCNI135
CACNA1ILAPIAFFCLRQTTSPRNWCIKMVCNPWFEC>V<SMLVILLNCVTLGMYQPCDDMDCLSDRCKI114
CACNA1SRPPRALFCLTLENPLRKACISIVEWKPFET>I<ILLTIFANCVALAVYLPMPEDDNNSLNLGL86
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L136Pc.407T>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaBrS 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 ArrhythmiaBrS 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