| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ11 | G134A | Hyperinsulinism | High | 9 | 14692646 |
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 KCNJ2.
| KCNJ2 | -KEGKACVSEVNSFTAAFLFSIETQTTIGY>G<FRCVTDECPIAVFMVVFQSIVGCIIDAFII | 176 |
| KCNJ1 | SANHTPCVENINGLTSAFLFSLETQVTIGY>G<FRCVTEQCATAIFLLIFQSILGVIINSFMC | 175 |
| KCNJ3 | -GNYTPCVANVYNFPSAFLFFIETEATIGY>G<YRYITDKCPEGIILFLFQSILGSIVDAFLI | 177 |
| KCNJ4 | PVAPKPCIMHVNGFLGAFLFSVETQTTIGY>G<FRCVTEECPLAVIAVVVQSIVGCVIDSFMI | 168 |
| KCNJ5 | -QEWIPCVENLSGFVSAFLFSIETETTIGY>G<FRVITEKCPEGIILLLVQAILGSIVNAFMV | 183 |
| KCNJ6 | -PSWTPCVTNLNGFVSAFLFSIETETTIGY>G<YRVITDKCPEGIILLLIQSVLGSIVNAFMV | 186 |
| KCNJ8 | GLESTVCVTNVRSFTSAFLFSIEVQVTIGF>G<GRMMTEECPLAITVLILQNIVGLIINAVML | 174 |
| KCNJ9 | -TAWTPCVNNLNGFVAAFLFSIETETTIGY>G<HRVITDQCPEGIVLLLLQAILGSMVNAFMV | 154 |
| KCNJ10 | PANHTPCVVQVHTLTGAFLFSLESQTTIGY>G<FRYISEECPLAIVLLIAQLVLTTILEIFIT | 162 |
| KCNJ11 | TA--EPCVTSIHSFSSAFLFSIEVQVTIGF>G<GRMVTEECPLAILILIVQNIVGLMINAIML | 164 |
| KCNJ12 | -RGRTPCVMQVHGFMAAFLFSIETQTTIGY>G<LRCVTEECPVAVFMVVAQSIVGCIIDSFMI | 177 |
| KCNJ13 | PENHTICVKYITSFTAAFSFSLETQLTIGY>G<TMFPSGDCPSAIALLAIQMLLGLMLEAFIT | 153 |
| KCNJ14 | --PPAPCFSHVASFLAAFLFALETQTSIGY>G<VRSVTEECPAAVAAVVLQCIAGCVLDAFVV | 181 |
| KCNJ15 | ISNHTPCIMKVDSLTGAFLFSLESQTTIGY>G<VRSITEECPHAIFLLVAQLVITTLIEIFIT | 161 |
| KCNJ16 | --DITPCVDNVHSFTGAFLFSLETQTTIGY>G<YRCVTEECSVAVLMVILQSILSCIINTFII | 165 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G146A | c.437G>C | Inherited Arrhythmia | LQTS | rs199473379 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. Pediatr Neurol. 2009 41(6):464-6. 19931173 | ||
| p.G146D | c.437G>A | Inherited Arrhythmia | LQTS | rs199473379 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 60(11):1811-6. 12796536 | ||
| p.G146S | c.436G>A | Inherited Arrhythmia | LQTS | rs199473654 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872 | ||
| p.G146R | c.436G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle Nerve. 2015 51(2):192-6. doi: 10.1002/mus.24293. 24861851 | ||