| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNJ5 | G151E | Aldosteronism with bilateral adrenal hyperplasia | High | 9 | 22203740, 22447138, 22203740, 22308486 |
| KCNJ5 | G151R | Aldosteronism, early-onset | High | 9 | 22308486, 24819081, 22308486 |
| KCNJ11 | G132D | Hyperinsulinism | High | 9 | 23345197 |
| KCNJ6 | G154S | Keppen-Lubinsky syndrome | High | 9 | 25620207 |
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 | ---KEGKACVSEVNSFTAAFLFSIETQTTI>G<YGFRCVTDECPIAVFMVVFQSIVGCIIDAF | 174 |
| KCNJ1 | --SANHTPCVENINGLTSAFLFSLETQVTI>G<YGFRCVTEQCATAIFLLIFQSILGVIINSF | 173 |
| KCNJ3 | ---GNYTPCVANVYNFPSAFLFFIETEATI>G<YGYRYITDKCPEGIILFLFQSILGSIVDAF | 175 |
| KCNJ4 | AAPVAPKPCIMHVNGFLGAFLFSVETQTTI>G<YGFRCVTEECPLAVIAVVVQSIVGCVIDSF | 166 |
| KCNJ5 | ---QEWIPCVENLSGFVSAFLFSIETETTI>G<YGFRVITEKCPEGIILLLVQAILGSIVNAF | 181 |
| KCNJ6 | ---PSWTPCVTNLNGFVSAFLFSIETETTI>G<YGYRVITDKCPEGIILLLIQSVLGSIVNAF | 184 |
| KCNJ8 | KSGLESTVCVTNVRSFTSAFLFSIEVQVTI>G<FGGRMMTEECPLAITVLILQNIVGLIINAV | 172 |
| KCNJ9 | ---TAWTPCVNNLNGFVAAFLFSIETETTI>G<YGHRVITDQCPEGIVLLLLQAILGSMVNAF | 152 |
| KCNJ10 | --PANHTPCVVQVHTLTGAFLFSLESQTTI>G<YGFRYISEECPLAIVLLIAQLVLTTILEIF | 160 |
| KCNJ11 | -GTA--EPCVTSIHSFSSAFLFSIEVQVTI>G<FGGRMVTEECPLAILILIVQNIVGLMINAI | 162 |
| KCNJ12 | ---RGRTPCVMQVHGFMAAFLFSIETQTTI>G<YGLRCVTEECPVAVFMVVAQSIVGCIIDSF | 175 |
| KCNJ13 | --PENHTICVKYITSFTAAFSFSLETQLTI>G<YGTMFPSGDCPSAIALLAIQMLLGLMLEAF | 151 |
| KCNJ14 | ----PPAPCFSHVASFLAAFLFALETQTSI>G<YGVRSVTEECPAAVAAVVLQCIAGCVLDAF | 179 |
| KCNJ15 | --ISNHTPCIMKVDSLTGAFLFSLESQTTI>G<YGVRSITEECPHAIFLLVAQLVITTLIEIF | 159 |
| KCNJ16 | ----DITPCVDNVHSFTGAFLFSLETQTTI>G<YGYRCVTEECSVAVLMVILQSILSCIINTF | 163 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G144A | c.431G>C | Inherited Arrhythmia | LQTS | rs199473377 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 111(21):2720-6. 15911703 | ||
| Inherited Arrhythmia | LQTS | Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat. 2006 27(4):388. 16541386 | |||
| p.G144D | c.431G>A | Inherited Arrhythmia | LQTS,CPVT | rs199473377 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. J Child Neurol. 2010 25(4):490-3. 20382953 | ||
| Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 | |||
| Inherited Arrhythmia | LQTS | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
| p.G144S | c.430G>A | Inherited Arrhythmia | LQTS | rs199473378 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 105(4):511-9. 11371347 | ||
| Inherited Arrhythmia | LQTS | Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457 | |||
| Inherited Arrhythmia | LQTS | Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004 15(2):190-9. 15028050 | |||
| 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 | Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906 | |||
| Inherited Arrhythmia | LQTS | Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. Cardiovasc Res. 2003 59(2):321-7. 12909315 | |||
| Inherited Arrhythmia | LQTS | Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976 | |||