Exact(30)
The most common cancer mutations map to single arginine residues in the catalytic pockets: IDH1 (R132) and IDH2 (R172 or R140) [56, 561]61].
The Prp17 N-terminus, which interacts with Prp19, does not encode a recognizable motif but some temperature-sensitive prp17 mutations map to this region [62].
All of the mutations map to the region of MSH2 that encodes the highly conserved C-terminus of the Msh2 protein that contains several functionally important domains [47], [63], [64], [65].
The mutations map to three locations on a canonical MKK structure: P1, on the center of beta strand 4 in the conserved motif X-F-Y-G-A-X; P4 and P5, on and at the end of the G helix, respectively (Figure 2D [15].
These mutations map to the GM linker and the finger loop in the putative signal sequence binding groove of the M domain of Ffh, the two distinctive regions of Ffh/SRP54 that are found in many different configurations among known structures.
Of the mutations associated with disease, five mutations map to four positions in the catalytic domain (N335K, P382L/Q, G409D, V487E); four are found in the cofactor binding domain (C223Y, T233M, N255S and G268E); and two are mapped to the oligomerisation domain (G176R and G533R).
Similar(29)
In two separate cases, complementing mutations mapped to the same gene, reducing the number of mapped loci to 28 (Table 1).
The observation of disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation and provides a potential rationale for phenotypic variation.
Mutations mapping to the β-domain of the protein predisposed to severe destabilization.
Complementation tests were conducted between Sacy mutations mapping to the same linkage group.
Figure 3 displays a pan-cancer view of gene mutations mapped to DO cancer terms.
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