No paralogue variants have been mapped to residue 1021 for SCN5A.
SCN5A | -A----QGQLPSCIATPYSPPP-PETEKVP>P<TRKETRFEEG--EQPGQG------------ | 1037 |
SCN1A | -PLDDLNNKKDSCMSNHT--------AEIG>K<DLDYLKDVNG--TTSGIG------------ | 1087 |
SCN2A | -PLEDLNNKKDSCISNHT-------TIEIG>K<DLNYLKDGNG--TTSGI------------- | 1078 |
SCN3A | -E----GNKIDSCMSNNT-------GIEIS>K<ELNYLRDGNG--TTSGVG------------ | 1075 |
SCN4A | -EADGAGEAGEAGETAPE-------DEKKE>P<PEEDLKKDNH--ILNHMG------------ | 898 |
SCN7A | -HVNEVYVKED--ISDHTL-------SELS>N<TQDFLKDKEK--S-S--------------- | 812 |
SCN8A | -PLDELYEKKANCIANHT-------GADIH>R<NGDFQKNGNG--TTSGI------------- | 1070 |
SCN9A | -QAEDLNTKKENYISNHT-------LAEMS>K<GHNFLKEKD---KISGF------------- | 1051 |
SCN10A | VKLPLSSSKAENHIAANT------------>-<-------ARG--SSGGLQ------------ | 975 |
SCN11A | ------KEVAGGCAAQ---------SKDII>P<LVMEMKRGSE--TQEELG------------ | 898 |
CACNA1A | -NEMDPDERWKAAYTR-HLRPDMKTHLDRP>L<VVDPQENRN-NNTNKSRAAEPTVDQRLGQQ | 853 |
CACNA1B | -SEMDPEERLRFATTR-HLRPDMKTHLDRP>L<VVELGRDGA-RGPVGGKARPEAAEAPEGVD | 847 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | -REEAPTMNPLNPLNP-LSSL-------NP>L<NAHPSLYRR-PRAIEGLAL-----GLALEK | 844 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | -SLLPPLIIHTAATPM-SLPKSTSTGLGEA>L<GPASRRTS-SSGSAEPGA------------ | 1079 |
CACNA1H | -SLSPPLIMCTAATPM-PTPKS-SPFLDAA>P<SLPDSRRGSSSS-GDP-P------------ | 1114 |
CACNA1I | -PLGGHLGPAGAAGPA-P--RL-SLQPDPM>L<VALGSRKSSVMS-LGR-M------------ | 960 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1021S | c.3061C>T | Inherited Arrhythmia | LQTS | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 |