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 R312C 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 312 in IRK2_HUMAN|
|Other point mutations / same protein||List of mutations in IRK2_HUMAN|
Inward rectifiers (Kir)|
Potassium channels 2 TMs
|Other point mutations / same position||
Position 294 in Inward rectifiers (Kir) family |
Position 294 in Potassium channels 2 TMs family
|Reference:||Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.|
Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE
Neuron 2002 Jun 13;34(6):933-44.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|