This data was extracted from Medline abstracts and full texts (when available) in an automated manner.
The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation E23K was found are listed after the table.
The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.
|General numbering (KChannelDB):||-|
|Other point mutations / same protein / same position||Point mutations at position 23 in IRK11_HUMAN|
|Other point mutations / same protein||List of mutations in IRK11_HUMAN|
Inward rectifiers (Kir)|
Potassium channels 2 TMs
|Other point mutations / same position||
Position 13 in Inward rectifiers (Kir) family |
Position 13 in Potassium channels 2 TMs family
|Reference:||Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.|
Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT
Diabetes 2004 Nov;53(11):2998-3001.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|