No paralogue variants have been mapped to residue 118 for KCNJ2.
KCNJ2 | LLHGDLDAS--------------------K>E<GKACVSEVNSFTAAFLFSIETQTTIGYGFR | 148 |
KCNJ1 | YIHKDLPEF--HP---------------SA>N<HTPCVENINGLTSAFLFSLETQVTIGYGFR | 147 |
KCNJ3 | YTRGDLNKA--HV----------------G>N<YTPCVANVYNFPSAFLFFIETEATIGYGYR | 149 |
KCNJ4 | FFHGDLEAS--PGVPAAGGPAAGGGGAAPV>A<PKPCIMHVNGFLGAFLFSVETQTTIGYGFR | 140 |
KCNJ5 | YIRGDLDHV--GD----------------Q>E<WIPCVENLSGFVSAFLFSIETETTIGYGFR | 155 |
KCNJ6 | YIRGDMDHI--ED----------------P>S<WTPCVTNLNGFVSAFLFSIETETTIGYGYR | 158 |
KCNJ8 | FAHGDIYAY--MEKS--G------MEKSGL>E<STVCVTNVRSFTSAFLFSIEVQVTIGFGGR | 146 |
KCNJ9 | YGRGDLEHL--ED----------------T>A<WTPCVNNLNGFVAAFLFSIETETTIGYGHR | 126 |
KCNJ10 | VAHGDLLEL--DP---------------PA>N<HTPCVVQVHTLTGAFLFSLESQTTIGYGFR | 134 |
KCNJ11 | FAHGDLAP----S-E------------GTA>-<-EPCVTSIHSFSSAFLFSIEVQVTIGFGGR | 136 |
KCNJ12 | VAHGDLEPA--EG----------------R>G<RTPCVMQVHGFMAAFLFSIETQTTIGYGLR | 149 |
KCNJ13 | EMNGDLELDHDAP---------------PE>N<HTICVKYITSFTAAFSFSLETQLTIGYGTM | 125 |
KCNJ14 | SLHGDLAAP--P------------------>P<PAPCFSHVASFLAAFLFALETQTSIGYGVR | 153 |
KCNJ15 | FIHGDLEPG--EP---------------IS>N<HTPCIMKVDSLTGAFLFSLESQTTIGYGVR | 133 |
KCNJ16 | FHHGDLLND--P------------------>D<ITPCVDNVHSFTGAFLFSLETQTTIGYGYR | 137 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E118D | c.354G>C | Putative Benign | SIFT: tolerated Polyphen: benign |