No paralogue variants have been mapped to residue 1033 for SCN5A.
SCN5A | ATPYSPPP-PETEKVPPTRKETRFEEG--E>Q<PGQG-------------------------- | 1037 |
SCN1A | SNHT--------AEIGKDLDYLKDVNG--T>T<SGIG-------------------------- | 1087 |
SCN2A | SNHT-------TIEIGKDLNYLKDGNG--T>T<SGI--------------------------- | 1078 |
SCN3A | SNNT-------GIEISKELNYLRDGNG--T>T<SGVG-------------------------- | 1075 |
SCN4A | TAPE-------DEKKEPPEEDLKKDNH--I>L<NHMG-------------------------- | 898 |
SCN7A | SDHTL-------SELSNTQDFLKDKEK--S>-<S----------------------------- | 812 |
SCN8A | ANHT-------GADIHRNGDFQKNGNG--T>T<SGI--------------------------- | 1070 |
SCN9A | SNHT-------LAEMSKGHNFLKEKD---K>I<SGF--------------------------- | 1051 |
SCN10A | AANT--------------------ARG--S>S<GGLQ-------------------------- | 975 |
SCN11A | AQ---------SKDIIPLVMEMKRGSE--T>Q<EELG-------------------------- | 898 |
CACNA1A | TR-HLRPDMKTHLDRPLVVDPQENRN-NNT>N<KSRAAEPTVDQRLGQQ-RAED--FLRKQAR | 864 |
CACNA1B | TR-HLRPDMKTHLDRPLVVELGRDGA-RGP>V<GGKARPEAAEAPEGVD-PP------RRHHR | 854 |
CACNA1C | ------------------------------>-<----------------EKKQELVE---K-- | 793 |
CACNA1D | ------------------------------>-<----------------ENKKN--N---K-- | 810 |
CACNA1E | NP-LSSL-------NPLNAHPSLYRR-PRA>I<EGLAL-----GLALEKFEEER--ISRGGSL | 856 |
CACNA1F | ------------------------------>-<----------------V------------- | 790 |
CACNA1G | PM-SLPKSTSTGLGEALGPASRRTS-SSGS>A<EPGA-------------------------- | 1079 |
CACNA1H | PM-PTPKS-SPFLDAAPSLPDSRRGSSSS->G<DP-P-------------------------- | 1114 |
CACNA1I | PA-P--RL-SLQPDPMLVALGSRKSSVMS->L<GR-M-------------------------- | 960 |
CACNA1S | ------------------------------>-<----------------EEKST--M---A-- | 702 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1033R | c.3098A>G | Inherited Arrhythmia | LQTS | rs199473641 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. Vestn Ross Akad Med Nauk. 2007 (5):3-11. 17605181 |