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 G144S 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 144 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 126 in Inward rectifiers (Kir) family |
Position 126 in Potassium channels 2 TMs family
|Reference:||PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.|
Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptacek LJ
Neurology 2003 Jun 10;60(11):1811-6.
|Other point mutations / same article||List|
|Text source||HTML full text|
|Validation status||Not yet checked|