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In addition, five missense mutations involved the arginine of the MAYDRY conserved motif.
With a single exception (OOU84 - p.Ala59Gly), KRAS mutations involved the Gly-12 residue.
Amongst these MBOTs, KRAS mutations involved the "hotspot" for Gly-12 only (Additional file 1).
In the present study, none of the BRAF mutations involved the amino acid V599.
None of these mutations involved the conserved amino acid and hence may not be crucial to p16 function [ 28].
Individuals with a progeroid syndrome have a premature aging phenotype and, depending on the specific mutations involved, the effects on lifespan may range from moderate to severe.
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In terms of the APC gene, SBN have a lower rate of mutations involving the APC gene compared to its involvement in CRC [ 63].
There are no known missense mutations involving the free C residue, according to the NCL mutational database (http://www.ucl.ac.uk/ncl/), indicating that this residue is not critical for TPPI catalysis.
These mutations involve the replacement of specific phenylalanine residues, which circumscribe the cavity, with tyrosine, tryptophan, leucine and isoleucine.
Clear cell renal carcinoma, the most common histologic subtype, is predominantly associated with mutations involving the von Hippel-Lindau gene and elaboration of vascular and somatic growth factors.
After several studies on relations between the mutations involving the core-binding factor A1 (CBFA1) on chromosome 6p21 and CCD were published, many studies have been conducted to determine the correlation between CBFA1 mutations and phenotypic variabilities [2].
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