No paralogue variants have been mapped to residue 1035 for SCN5A.
SCN5A | PYSPPP-PETEKVPPTRKETRFEEG--EQP>G<QG--------------------------T- | 1038 |
SCN1A | HT--------AEIGKDLDYLKDVNG--TTS>G<IG--------------------------T- | 1088 |
SCN2A | HT-------TIEIGKDLNYLKDGNG--TTS>G<I----------------------------- | 1078 |
SCN3A | NT-------GIEISKELNYLRDGNG--TTS>G<VG--------------------------T- | 1076 |
SCN4A | PE-------DEKKEPPEEDLKKDNH--ILN>H<MG---------------------------- | 898 |
SCN7A | HTL-------SELSNTQDFLKDKEK--S-S>-<------------------------------ | 812 |
SCN8A | HT-------GADIHRNGDFQKNGNG--TTS>G<I----------------------------- | 1070 |
SCN9A | HT-------LAEMSKGHNFLKEKD---KIS>G<F----------------------------- | 1051 |
SCN10A | NT--------------------ARG--SSG>G<LQ--------------------------A- | 976 |
SCN11A | ---------SKDIIPLVMEMKRGSE--TQE>E<LG--------------------------I- | 899 |
CACNA1A | -HLRPDMKTHLDRPLVVDPQENRN-NNTNK>S<RAAEPTVDQRLGQQ-RAED--FLRKQARYH | 866 |
CACNA1B | -HLRPDMKTHLDRPLVVELGRDGA-RGPVG>G<KARPEAAEAPEGVD-PP------RRHHRHR | 856 |
CACNA1C | ------------------------------>-<--------------EKKQELVE---K---- | 793 |
CACNA1D | ------------------------------>-<--------------ENKKN--N---K---- | 810 |
CACNA1E | -LSSL-------NPLNAHPSLYRR-PRAIE>G<LAL-----GLALEKFEEER--ISRGGSLKG | 858 |
CACNA1F | ------------------------------>-<--------------V--------------- | 790 |
CACNA1G | -SLPKSTSTGLGEALGPASRRTS-SSGSAE>P<GA--------------------------AH | 1081 |
CACNA1H | -PTPKS-SPFLDAAPSLPDSRRGSSSS-GD>P<-P--------------------------LG | 1116 |
CACNA1I | -P--RL-SLQPDPMLVALGSRKSSVMS-LG>R<-M--------------------------SY | 962 |
CACNA1S | ------------------------------>-<--------------EEKST--M---A---- | 702 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1035D | c.3104G>A | Putative Benign | rs372235870 | SIFT: tolerated Polyphen: probably damaging |