Table 1.

Summary of Activating Mutations in βc

MutantReceptor/Domain AffectedCommentReference
V449E hβc Transmembrane domain Likely to mediate homodimerization 89 
FIΔ hβc Extracellular domain 4 37 aa duplication 88, 89 
HSV hβc Extracellular domain 4 Insertion of 11 amino acids Jones et al (manuscript submitted) 
Truncation mutants ΔQP, ΔH hβc Extracellular domain 4 Truncations removing domains 1, 2, and 3 91 
I374N, also I374D, I374Q, I374F hβc Extracellular domain 4 Point mutation in strand C′ 89, 90 
W358N, L356N hβc Extracellular domain 4 Point mutations in strand B′ 90 
Rearranged mβc gene mβc Extracellular domain May induce disulfide-linked dimerization 92 
MutantReceptor/Domain AffectedCommentReference
V449E hβc Transmembrane domain Likely to mediate homodimerization 89 
FIΔ hβc Extracellular domain 4 37 aa duplication 88, 89 
HSV hβc Extracellular domain 4 Insertion of 11 amino acids Jones et al (manuscript submitted) 
Truncation mutants ΔQP, ΔH hβc Extracellular domain 4 Truncations removing domains 1, 2, and 3 91 
I374N, also I374D, I374Q, I374F hβc Extracellular domain 4 Point mutation in strand C′ 89, 90 
W358N, L356N hβc Extracellular domain 4 Point mutations in strand B′ 90 
Rearranged mβc gene mβc Extracellular domain May induce disulfide-linked dimerization 92 
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