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 A156V 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||List of mutations in IRK1_HUMAN|
Inward rectifiers (Kir)|
Potassium channels 2 TMs
|Other point mutations / same position||
Position 139 in Inward rectifiers (Kir) family |
Position 139 in Potassium channels 2 TMs family
|Reference:||A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance.|
Kunzelmann K, Hubner M, Vollmer M, Ruf R, Hildebrandt F, Greger R, Schreiber R
Cell Physiol Biochem 2000;10(3):117-24.
|Other point mutations / same article||List|
|Validation status||True positive|