Paralogue Annotation for KCNE1 residue 48
Residue details
Gene: KCNE1Reference Sequences: LRG:
LRG_290, Ensembl variant:
ENST00000399289 /
ENSP00000382228Amino Acid Position: 48
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region
Paralogue Variants mapped to KCNE1 residue 48
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | KCNE2 | M54T | Cardiac arrhythmia | Medium | 9 |
10219239, 19716085, 20042375, 22378279, 23631727, 24631769, 25333069, 24569893, 25637381, 26159999, 26859003 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNE1.
| KCNE1 | -VQQGGN-MSGLA-RRSPRSSDGKLEALYV>L<MVLGFFGFFTLGIMLSYIRSKKLEHSNDPF | 78 |
| KCNE2 | RQNTTAEQEALQA-KVDAENFY--YVILYL>M<VMIGMFSFIIVAILVSTVKSKRREHSNDPY | 84 |
| KCNE3 | GPGLGPD-NQTEERRASLPGR-DDNSYMYI>L<FVMFLFAVTVGSLILGYTRSRKVDKRSDPY | 92 |
| KCNE4 | HPGTAASSSPLES-RAAGGGSGNGNEYFYI>L<VVMSFYGIFLIGIMLGYMKSKRREKKSSLL | 70 |
| cons | > < | |
Known Variants in KCNE1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.L48F | c.142C>T |
Putative Benign | | rs75610894 | SIFT: deleterious
Polyphen: probably damaging |