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 D71V 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 71 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 50 in Inward rectifiers (Kir) family |
Position 50 in Potassium channels 2 TMs family
|Reference:||Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).|
Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R
J Clin Invest 2002 Aug;110(3):381-8.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|