Human Glycine a1 -- Gln 266
| Human |
Gln 266 |
Mutations |
|
|
| Rat Equivalent |
Gln 266 |
Mutations |
Q266H
| His |
| Mouse Equivalent |
Gln 266 |
Mutations |
|
|
hGln266His
Milani N, Dalpra L, del Prete A, Zanini R, Larizza L (1996) A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. American Journal of Human Gentetics 58(2):420-2
Moorhouse AJ, Jacques P, Barry PH, Schofield PR (1999) The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating. Molecular Pharmacology 55(2):386-95
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