Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ10 | R204H | Seizures, generalized | High | 9 | 22782654 |
KCNJ11 | R206C | Hyperinsulinism | High | 9 | 25555642 |
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 | KRNETLVFSHNAVIAMRDGKLCLMWRVGNL>R<KSHLVEAHVRAQLLKSRITSEGEYIPLDQI | 248 |
KCNJ1 | KRAKTITFSKNAVISKRGGKLCLLIRVANL>R<KSLLIGSHIYGKLLKTTVTPEGETIILDQI | 247 |
KCNJ3 | KRAETLMFSEHAVISMRDGKLTLMFRVGNL>R<NSHMVSAQIRCKLLKSRQTPEGEFLPLDQL | 249 |
KCNJ4 | KRAQTLLFSHHAVISVRDGKLCLMWRVGNL>R<KSHIVEAHVRAQLIKPYMTQEGEYLPLDQR | 240 |
KCNJ5 | KRAETLMFSNNAVISMRDEKLCLMFRVGDL>R<NSHIVEASIRAKLIKSRQTKEGEFIPLNQT | 255 |
KCNJ6 | KRAETLVFSTHAVISMRDGKLCLMFRVGDL>R<NSHIVEASIRAKLIKSKQTSEGEFIPLNQT | 258 |
KCNJ8 | RRAETLIFSRHAVIAVRNGKLCFMFRVGDL>R<KSMIISASVRIQVVKKTTTPEGEVVPIHQL | 246 |
KCNJ9 | KRAATLVFSSHAVVSLRDGRLCLMFRVGDL>R<SSHIVEASIRAKLIRSRQTLEGEFIPLHQT | 226 |
KCNJ10 | KRAETIRFSQHAVVASHNGKPCLMIRVANM>R<KSLLIGCQVTGKLLQTHQTKEGENIRLNQV | 234 |
KCNJ11 | RRAETLIFSKHAVIALRHGRLCFMLRVGDL>R<KSMIISATIHMQVVRKTTSPEGEVVPLHQV | 236 |
KCNJ12 | KRAQTLLFSHNAVVALRDGKLCLMWRVGNL>R<KSHIVEAHVRAQLIKPRVTEEGEYIPLDQI | 249 |
KCNJ13 | NRAFSIRFTDTAVVAHMDGKPNLIFQVANT>R<PSPLTSVRVSAVLYQERENGK----L-YQT | 220 |
KCNJ14 | KRNETLVFSENAVVALRDHRLCLMWRVGNL>R<RSHLVEAHVRAQLLQPRVTPEGEYIPLDHQ | 253 |
KCNJ15 | KRAETIKFSHCAVITKQNGKLCLVIQVANM>R<KSLLIQCQLSGKLLQTHVTKEGERILLNQA | 233 |
KCNJ16 | KRAQTIRFSYFALIGMRDGKLCLMWRIGDF>R<PNHVVEGTVRAQLLRYTEDSEGRM-TMAFK | 236 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R218Q | c.653G>A | Inherited Arrhythmia | LQTS | rs199473384 | 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 | Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. J Hum Genet. 2007 52(3):280-3. 17211524 | |||
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 | |||
Inherited Arrhythmia | LQTS | Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. Ann Noninvasive Electrocardiol. 2015 26109178 | |||
p.R218W | c.652C>T | Inherited Arrhythmia | LQTS | rs104894578 | 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 | PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 60(11):1811-6. 12796536 | |||
Inherited Arrhythmia | LQTS | KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome. Pediatr Int. 2005 47(2):220-3. 15852530 | |||
Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063 | |||
Inherited Arrhythmia | LQTS | A family with Andersen-Tawil syndrome and dilated cardiomyopathy. Heart Rhythm. 2006 3(11):1346-50. 17074642 | |||
Inherited Arrhythmia | LQTS | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. Arq Neuropsiquiatr. 2006 64(3A):582-4. 17119796 | |||
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 | Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome. Heart Rhythm. 2007 4(4):508-11. 17399642 | |||
Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome: management challenges during pregnancy, labor, and delivery. J Cardiovasc Electrophysiol. 2008 19(9):987-9. 18554214 | |||
Inherited Arrhythmia | LQTS | Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome. Pract Neurol. 2010 10(4):227-31. 20647529 | |||
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 | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||
Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome with early fixed myopathy. J Clin Neuromuscul Dis. 2014 16(2):79-82. doi: 10.1097/CND.0000000000000052. 25415519 | |||
p.Arg218Leu | c.653G>T | Unknown | SIFT: Polyphen: |