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 |