No paralogue variants have been mapped to residue 227 for KCNJ2.
| KCNJ2 | HNAVIAMRDGKLCLMWRVGNLRKSHLVEAH>V<RAQLLKSRITSEGEYIPLDQIDINVGFD-- | 255 |
| KCNJ1 | KNAVISKRGGKLCLLIRVANLRKSLLIGSH>I<YGKLLKTTVTPEGETIILDQININFVVD-- | 254 |
| KCNJ3 | EHAVISMRDGKLTLMFRVGNLRNSHMVSAQ>I<RCKLLKSRQTPEGEFLPLDQLELDVGFS-- | 256 |
| KCNJ4 | HHAVISVRDGKLCLMWRVGNLRKSHIVEAH>V<RAQLIKPYMTQEGEYLPLDQRDLNVGYD-- | 247 |
| KCNJ5 | NNAVISMRDEKLCLMFRVGDLRNSHIVEAS>I<RAKLIKSRQTKEGEFIPLNQTDINVGFD-- | 262 |
| KCNJ6 | THAVISMRDGKLCLMFRVGDLRNSHIVEAS>I<RAKLIKSKQTSEGEFIPLNQTDINVGYY-- | 265 |
| KCNJ8 | RHAVIAVRNGKLCFMFRVGDLRKSMIISAS>V<RIQVVKKTTTPEGEVVPIHQLDIPVDNP-- | 253 |
| KCNJ9 | SHAVVSLRDGRLCLMFRVGDLRSSHIVEAS>I<RAKLIRSRQTLEGEFIPLHQTDLSVGFD-- | 233 |
| KCNJ10 | QHAVVASHNGKPCLMIRVANMRKSLLIGCQ>V<TGKLLQTHQTKEGENIRLNQVNVTFQVD-- | 241 |
| KCNJ11 | KHAVIALRHGRLCFMLRVGDLRKSMIISAT>I<HMQVVRKTTSPEGEVVPLHQVDIPMENG-- | 243 |
| KCNJ12 | HNAVVALRDGKLCLMWRVGNLRKSHIVEAH>V<RAQLIKPRVTEEGEYIPLDQIDIDVGFD-- | 256 |
| KCNJ13 | DTAVVAHMDGKPNLIFQVANTRPSPLTSVR>V<SAVLYQERENGK----L-YQTSVDFHLDGI | 229 |
| KCNJ14 | ENAVVALRDHRLCLMWRVGNLRRSHLVEAH>V<RAQLLQPRVTPEGEYIPLDHQDVDVGFD-- | 260 |
| KCNJ15 | HCAVITKQNGKLCLVIQVANMRKSLLIQCQ>L<SGKLLQTHVTKEGERILLNQATVKFHVD-- | 240 |
| KCNJ16 | YFALIGMRDGKLCLMWRIGDFRPNHVVEGT>V<RAQLLRYTEDSEGRM-TMAFKDLKLV---- | 241 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V227F | c.679G>T | Other Cardiac Phenotype | rs199473657 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | |||
| Other Cardiac Phenotype | Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol. 2009 2(5):540-7. 19843922 | ||||
| Other Cardiac Phenotype | 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 | ||||