No paralogue variants have been mapped to residue 136 for KCNJ2.
KCNJ2 | -----------KEGKACVSEVNSFTAAFLF>S<IETQTTIGYGFRCVTDECPIAVFMVVFQSI | 166 |
KCNJ1 | ----------SANHTPCVENINGLTSAFLF>S<LETQVTIGYGFRCVTEQCATAIFLLIFQSI | 165 |
KCNJ3 | -----------GNYTPCVANVYNFPSAFLF>F<IETEATIGYGYRYITDKCPEGIILFLFQSI | 167 |
KCNJ4 | GPAAGGGGAAPVAPKPCIMHVNGFLGAFLF>S<VETQTTIGYGFRCVTEECPLAVIAVVVQSI | 158 |
KCNJ5 | -----------QEWIPCVENLSGFVSAFLF>S<IETETTIGYGFRVITEKCPEGIILLLVQAI | 173 |
KCNJ6 | -----------PSWTPCVTNLNGFVSAFLF>S<IETETTIGYGYRVITDKCPEGIILLLIQSV | 176 |
KCNJ8 | ------MEKSGLESTVCVTNVRSFTSAFLF>S<IEVQVTIGFGGRMMTEECPLAITVLILQNI | 164 |
KCNJ9 | -----------TAWTPCVNNLNGFVAAFLF>S<IETETTIGYGHRVITDQCPEGIVLLLLQAI | 144 |
KCNJ10 | ----------PANHTPCVVQVHTLTGAFLF>S<LESQTTIGYGFRYISEECPLAIVLLIAQLV | 152 |
KCNJ11 | ---------GTA--EPCVTSIHSFSSAFLF>S<IEVQVTIGFGGRMVTEECPLAILILIVQNI | 154 |
KCNJ12 | -----------RGRTPCVMQVHGFMAAFLF>S<IETQTTIGYGLRCVTEECPVAVFMVVAQSI | 167 |
KCNJ13 | ----------PENHTICVKYITSFTAAFSF>S<LETQLTIGYGTMFPSGDCPSAIALLAIQML | 143 |
KCNJ14 | ------------PPAPCFSHVASFLAAFLF>A<LETQTSIGYGVRSVTEECPAAVAAVVLQCI | 171 |
KCNJ15 | ----------ISNHTPCIMKVDSLTGAFLF>S<LESQTTIGYGVRSITEECPHAIFLLVAQLV | 151 |
KCNJ16 | ------------DITPCVDNVHSFTGAFLF>S<LETQTTIGYGYRCVTEECSVAVLMVILQSI | 155 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S136F | c.407C>T | Inherited Arrhythmia | LQTS | rs199473376 | SIFT: tolerated 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 | 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 | Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906 | |||
Inherited Arrhythmia | LQTS | Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976 |