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MeSH Review

Amino Acid Substitution

 
 
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Disease relevance of Amino Acid Substitution

 

Psychiatry related information on Amino Acid Substitution

 

High impact information on Amino Acid Substitution

 

Chemical compound and disease context of Amino Acid Substitution

 

Biological context of Amino Acid Substitution

 

Anatomical context of Amino Acid Substitution

 

Associations of Amino Acid Substitution with chemical compounds

 

Gene context of Amino Acid Substitution

  • This mutation (C749G) predicts a Pro250Arg amino acid substitution in the extracellular domain of the FGFR3 protein [35].
  • Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin [36].
  • These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis [37].
  • An analogous version of human TFIID, generated by introducing the same amino acid substitutions in the corresponding region of the protein, can support basal and GCN4-activated transcription in yeast cells from a TGTAAA-containing promoter [38].
  • Sequencing of candidate genes from the Char4 region identified a loss-of-function mutation (269T-->A, resulting in the amino acid substitution I90N) in the pyruvate kinase gene (Pklr) that underlies the malaria resistance in AcB55 and AcB61 [39].
 

Analytical, diagnostic and therapeutic context of Amino Acid Substitution

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