| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ1 | T191I | Bartter syndrome | High | 9 | 20219833 |
| KCNJ1 | T191P | Bartter syndrome | High | 9 | 24696311 |
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 | VFQSIVGCIIDAFIIGAVMAKMAKPKKRNE>T<LVFSHNAVIAMRDGKLCLMWRVGNLRKSHL | 222 |
| KCNJ1 | IFQSILGVIINSFMCGAILAKISRPKKRAK>T<ITFSKNAVISKRGGKLCLLIRVANLRKSLL | 221 |
| KCNJ3 | LFQSILGSIVDAFLIGCMFIKMSQPKKRAE>T<LMFSEHAVISMRDGKLTLMFRVGNLRNSHM | 223 |
| KCNJ4 | VVQSIVGCVIDSFMIGTIMAKMARPKKRAQ>T<LLFSHHAVISVRDGKLCLMWRVGNLRKSHI | 214 |
| KCNJ5 | LVQAILGSIVNAFMVGCMFVKISQPKKRAE>T<LMFSNNAVISMRDEKLCLMFRVGDLRNSHI | 229 |
| KCNJ6 | LIQSVLGSIVNAFMVGCMFVKISQPKKRAE>T<LVFSTHAVISMRDGKLCLMFRVGDLRNSHI | 232 |
| KCNJ8 | ILQNIVGLIINAVMLGCIFMKTAQAHRRAE>T<LIFSRHAVIAVRNGKLCFMFRVGDLRKSMI | 220 |
| KCNJ9 | LLQAILGSMVNAFMVGCMFVKISQPNKRAA>T<LVFSSHAVVSLRDGRLCLMFRVGDLRSSHI | 200 |
| KCNJ10 | IAQLVLTTILEIFITGTFLAKIARPKKRAE>T<IRFSQHAVVASHNGKPCLMIRVANMRKSLL | 208 |
| KCNJ11 | IVQNIVGLMINAIMLGCIFMKTAQAHRRAE>T<LIFSKHAVIALRHGRLCFMLRVGDLRKSMI | 210 |
| KCNJ12 | VAQSIVGCIIDSFMIGAIMAKMARPKKRAQ>T<LLFSHNAVVALRDGKLCLMWRVGNLRKSHI | 223 |
| KCNJ13 | AIQMLLGLMLEAFITGAFVAKIARPKNRAF>S<IRFTDTAVVAHMDGKPNLIFQVANTRPSPL | 199 |
| KCNJ14 | VLQCIAGCVLDAFVVGAVMAKMAKPKKRNE>T<LVFSENAVVALRDHRLCLMWRVGNLRRSHL | 227 |
| KCNJ15 | VAQLVITTLIEIFITGTFLAKIARPKKRAE>T<IKFSHCAVITKQNGKLCLVIQVANMRKSLL | 207 |
| KCNJ16 | ILQSILSCIINTFIIGAALAKMATARKRAQ>T<IRFSYFALIGMRDGKLCLMWRIGDFRPNHV | 211 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T192A | c.574A>G | Inherited Arrhythmia | LQTS | rs199473382 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation. 2002 105(22):2592-4. 12045162 | ||
| Inherited Arrhythmia | LQTS | Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872 | |||
| Inherited Arrhythmia | LQTS | Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. Heart Rhythm. 2007 4(4):512-5. 17399643 | |||
| Other Disease Phenotype | Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2. Cardiology. 2011 120(4):200-3. doi: 10.1159/000335529. 22286118 | ||||
| p.T192I | c.575C>T | Inherited Arrhythmia | LQTS | rs199473655 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome. J Hum Genet. 2010 55(3):186-8. 20111058 | ||