Paralogue Annotation for KCNE2 residue 119
Residue details
Gene: KCNE2Reference Sequences: LRG:
LRG_291, Ensembl variant:
ENST00000290310 /
ENSP00000290310Amino Acid Position: 119
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus
Paralogue Variants mapped to KCNE2 residue 119
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | KCNE1 | T125M | Long QT syndrome | Medium | 8 |
19716085, 25637381 |
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 KCNE2.
| KCNE2 | --------EE-----SKATIHE--NIGAAG>F<KMS----------------P | 123 |
| KCNE1 | --------EN-----HLAIEQP--NTHLPE>T<KPS----------------P | 129 |
| KCNE3 | ---------------RVSM----------->-<-------------------I | 103 |
| KCNE4 | MEGDSVSSESSSPDVHLTIQEEGADDELEE>T<SETPLNESSEGSSENIHQNS | 170 |
| cons | > < | |
Known Variants in KCNE2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.F119L | c.357C>A |
Putative Benign | | rs139202426 | SIFT: tolerated
Polyphen: benign |
| Reports | Unknown | |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387.
25351510 |