No paralogue variants have been mapped to residue 232 for KCNJ2.
KCNJ2 | AMRDGKLCLMWRVGNLRKSHLVEAHVRAQL>L<KSRITSEGEYIPLDQIDINVGFD--SGIDR | 260 |
KCNJ1 | SKRGGKLCLLIRVANLRKSLLIGSHIYGKL>L<KTTVTPEGETIILDQININFVVD--AGNEN | 259 |
KCNJ3 | SMRDGKLTLMFRVGNLRNSHMVSAQIRCKL>L<KSRQTPEGEFLPLDQLELDVGFS--TGADQ | 261 |
KCNJ4 | SVRDGKLCLMWRVGNLRKSHIVEAHVRAQL>I<KPYMTQEGEYLPLDQRDLNVGYD--IGLDR | 252 |
KCNJ5 | SMRDEKLCLMFRVGDLRNSHIVEASIRAKL>I<KSRQTKEGEFIPLNQTDINVGFD--TGDDR | 267 |
KCNJ6 | SMRDGKLCLMFRVGDLRNSHIVEASIRAKL>I<KSKQTSEGEFIPLNQTDINVGYY--TGDDR | 270 |
KCNJ8 | AVRNGKLCFMFRVGDLRKSMIISASVRIQV>V<KKTTTPEGEVVPIHQLDIPVDNP--IESNN | 258 |
KCNJ9 | SLRDGRLCLMFRVGDLRSSHIVEASIRAKL>I<RSRQTLEGEFIPLHQTDLSVGFD--TGDDR | 238 |
KCNJ10 | ASHNGKPCLMIRVANMRKSLLIGCQVTGKL>L<QTHQTKEGENIRLNQVNVTFQVD--TASDS | 246 |
KCNJ11 | ALRHGRLCFMLRVGDLRKSMIISATIHMQV>V<RKTTSPEGEVVPLHQVDIPMENG--VGGNS | 248 |
KCNJ12 | ALRDGKLCLMWRVGNLRKSHIVEAHVRAQL>I<KPRVTEEGEYIPLDQIDIDVGFD--KGLDR | 261 |
KCNJ13 | AHMDGKPNLIFQVANTRPSPLTSVRVSAVL>Y<QERENGK----L-YQTSVDFHLDGISSDEC | 234 |
KCNJ14 | ALRDHRLCLMWRVGNLRRSHLVEAHVRAQL>L<QPRVTPEGEYIPLDHQDVDVGFD--GGTDR | 265 |
KCNJ15 | TKQNGKLCLVIQVANMRKSLLIQCQLSGKL>L<QTHVTKEGERILLNQATVKFHVD--SSSES | 245 |
KCNJ16 | GMRDGKLCLMWRIGDFRPNHVVEGTVRAQL>L<RYTEDSEGRM-TMAFKDLKLV------NDQ | 244 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L232F | c.694C>T | Putative Benign | SIFT: Polyphen: |