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 Y330C 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 330 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 324 in Inward rectifiers (Kir) family |
Position 324 in Potassium channels 2 TMs family
|Reference:||Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.|
Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M
Diabetes 2004 Oct;53(10):2719-22.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|