Human Glycine a1 -- Lys 276

Human Lys 276 Mutations

K276E

Glu
Rat Equivalent Lys 276 Mutations    
Mouse Equivalent Lys 276 Mutations    

 

hLys276Glu

Elmslie FV, Hutchings SM, Spencer V, Curtis A ,Covanis T, Gardiner RM, Rees M (1996) Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. Journal of Medical Genetics 33(5):435-6

 

Lewis TM, Sivilotti LG, Colquhoun D, Gardiner RM, Schoepfer R, Rees M (1998) Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes. Journal of Physiology 507(Pt 1):25-40

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