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. 2012 Jun 25;40(17):8733–8742. doi: 10.1093/nar/gks614

Table 4.

Known mutations in RNase T2 with clinical relevance. (1)

Mutation type Affected amino acids Comment
Missense Cys184Arg Disulfide bridge 184–241 missing, destabilizing and sensitizing for oxidation
Deletion Met 1–Glu 92 Secretion signal peptide deleted; deletion of central part of α+β motif containing β1, β2, α1 and α2
Deletion Ala 17–Leu 21 Secretion signal peptide deleted
Deletion Asp 30–Trp 86 Deletion of central part of α+β motif containing β1, β2, α1 and α2
Deletion Asp 30–Trp 111 Deletion of central part of α+β motif containing β1, β2, α1 and α2
Deletion Pro 69–Trp 111 Deletion of central part of α+β motif containing β2 and α2
Deletion Val 165–Gln 189 Deletion of central part of α+β motif containing β4 and α7
Stop Asp 88–XX–Stop Rest of protein is not produced
Stop Asp 88–XXX–Stop Rest of protein is not produced