No paralogue variants have been mapped to residue 1100 for SCN5A.
SCN5A | ---------GGPEAP-----PDSRTWSQVS>A<TASS------EA---------EASASQADW | 1115 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | -----------------------------H>Q<ENKK------PT---------SQRVQSVEI | 966 |
CACNA1A | AEDIDNMKNNKLATAESAAPHGSLGHAGLP>Q<SPAKMGNSTDPGPMLAIPAMATNPQNAASR | 1123 |
CACNA1B | -----------------EKE--------AT>E<KEAEIVEADKEKELR-NHQPREPHCDLETS | 1033 |
CACNA1C | --------------------EMPVGPRP-->-<------------------------------ | 859 |
CACNA1D | --------------------EVPAGPRP-->-<------------------------------ | 865 |
CACNA1E | ----------------------------MG>R<VI-------S------QSEPDLSCITAN-- | 1059 |
CACNA1F | --------------------EEEGAGGV-->-<------------------------------ | 830 |
CACNA1G | --------------------NLSKGERV-->-<------------------------------ | 1236 |
CACNA1H | --------------------EDSCCLRL-->-<------------------------------ | 1254 |
CACNA1I | --------------------DYTLCFRV-->-<------------------------------ | 1130 |
CACNA1S | --------------------EIPLSPRP-->-<------------------------------ | 758 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1100V | c.3299C>T | Inherited Arrhythmia | LQTS | rs199473192 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
p.A1100P | c.3298G>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.A1100T | c.3298G>A | Putative Benign | SIFT: tolerated Polyphen: benign |