Paralogue Annotation for KCNJ2 residue 136

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 136
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 136

No paralogue variants have been mapped to residue 136 for KCNJ2.



KCNJ2-----------KEGKACVSEVNSFTAAFLF>S<IETQTTIGYGFRCVTDECPIAVFMVVFQSI166
KCNJ1----------SANHTPCVENINGLTSAFLF>S<LETQVTIGYGFRCVTEQCATAIFLLIFQSI165
KCNJ3-----------GNYTPCVANVYNFPSAFLF>F<IETEATIGYGYRYITDKCPEGIILFLFQSI167
KCNJ4GPAAGGGGAAPVAPKPCIMHVNGFLGAFLF>S<VETQTTIGYGFRCVTEECPLAVIAVVVQSI158
KCNJ5-----------QEWIPCVENLSGFVSAFLF>S<IETETTIGYGFRVITEKCPEGIILLLVQAI173
KCNJ6-----------PSWTPCVTNLNGFVSAFLF>S<IETETTIGYGYRVITDKCPEGIILLLIQSV176
KCNJ8------MEKSGLESTVCVTNVRSFTSAFLF>S<IEVQVTIGFGGRMMTEECPLAITVLILQNI164
KCNJ9-----------TAWTPCVNNLNGFVAAFLF>S<IETETTIGYGHRVITDQCPEGIVLLLLQAI144
KCNJ10----------PANHTPCVVQVHTLTGAFLF>S<LESQTTIGYGFRYISEECPLAIVLLIAQLV152
KCNJ11---------GTA--EPCVTSIHSFSSAFLF>S<IEVQVTIGFGGRMVTEECPLAILILIVQNI154
KCNJ12-----------RGRTPCVMQVHGFMAAFLF>S<IETQTTIGYGLRCVTEECPVAVFMVVAQSI167
KCNJ13----------PENHTICVKYITSFTAAFSF>S<LETQLTIGYGTMFPSGDCPSAIALLAIQML143
KCNJ14------------PPAPCFSHVASFLAAFLF>A<LETQTSIGYGVRSVTEECPAAVAAVVLQCI171
KCNJ15----------ISNHTPCIMKVDSLTGAFLF>S<LESQTTIGYGVRSITEECPHAIFLLVAQLV151
KCNJ16------------DITPCVDNVHSFTGAFLF>S<LETQTTIGYGYRCVTEECSVAVLMVILQSI155
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S136Fc.407C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 105(4):511-9. 11371347
Inherited ArrhythmiaLQTS Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906
Inherited ArrhythmiaLQTS Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976