No paralogue variants have been mapped to residue 1027 for SCN5A.
SCN5A | QGQLPSCIATPYSPPP-PETEKVPPTRKET>R<FEEG--EQPGQG------------------ | 1037 |
SCN1A | NNKKDSCMSNHT--------AEIGKDLDYL>K<DVNG--TTSGIG------------------ | 1087 |
SCN2A | NNKKDSCISNHT-------TIEIGKDLNYL>K<DGNG--TTSGI------------------- | 1078 |
SCN3A | GNKIDSCMSNNT-------GIEISKELNYL>R<DGNG--TTSGVG------------------ | 1075 |
SCN4A | GEAGEAGETAPE-------DEKKEPPEEDL>K<KDNH--ILNHMG------------------ | 898 |
SCN7A | YVKED--ISDHTL-------SELSNTQDFL>K<DKEK--S-S--------------------- | 812 |
SCN8A | YEKKANCIANHT-------GADIHRNGDFQ>K<NGNG--TTSGI------------------- | 1070 |
SCN9A | NTKKENYISNHT-------LAEMSKGHNFL>K<EKD---KISGF------------------- | 1051 |
SCN10A | SSKAENHIAANT------------------>-<-ARG--SSGGLQ------------------ | 975 |
SCN11A | KEVAGGCAAQ---------SKDIIPLVMEM>K<RGSE--TQEELG------------------ | 898 |
CACNA1A | DERWKAAYTR-HLRPDMKTHLDRPLVVDPQ>E<NRN-NNTNKSRAAEPTVDQRLGQQ-RAED- | 857 |
CACNA1B | EERLRFATTR-HLRPDMKTHLDRPLVVELG>R<DGA-RGPVGGKARPEAAEAPEGVD-PP--- | 849 |
CACNA1C | ------------------------------>-<------------------------EKKQEL | 790 |
CACNA1D | ------------------------------>-<------------------------ENKKN- | 808 |
CACNA1E | TMNPLNPLNP-LSSL-------NPLNAHPS>L<YRR-PRAIEGLAL-----GLALEKFEEER- | 849 |
CACNA1F | ------------------------------>-<------------------------V----- | 790 |
CACNA1G | LIIHTAATPM-SLPKSTSTGLGEALGPASR>R<TS-SSGSAEPGA------------------ | 1079 |
CACNA1H | LIMCTAATPM-PTPKS-SPFLDAAPSLPDS>R<RGSSSS-GDP-P------------------ | 1114 |
CACNA1I | LGPAGAAGPA-P--RL-SLQPDPMLVALGS>R<KSSVMS-LGR-M------------------ | 960 |
CACNA1S | ------------------------------>-<------------------------EEKST- | 700 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1027Q | c.3080G>A | Putative Benign | SIFT: Polyphen: | ||
p.R1027W | c.3079C>T | Cardiomyopathy | nsCM | SIFT: Polyphen: | |
Reports | Cardiomyopathy | nsCM | Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977 |