- ... syndrome have been located within an eight-amino-acid region of the PCNA-binding domain (nucleotides c.814 ... inherited allele that fall within an eight amino-acid region of the PCNA (proliferating cell nuclear antigen)-binding ...
- ... Molecular Pathogenesis ). σ4 has a 1-142 amino acid region that is involved in the assembly of the ...
- ... glycine residues localized in a short 30-amino acid region of the protein, whereas all but one pathogenic ...
- ... from 352 to 441 protein building blocks (amino acids). A region of the protein called the microtubule-binding domain, ... The very end of the NICD contains a region known as a proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain. The PEST ...
- ... these variants change single protein building blocks (amino acids) in several regions of the enzyme. A few variants delete a ... Each of these variants changes a single amino acid in a region of the enzyme known as the allosteric site. ...
- ... core disease affect single protein building blocks (amino acids) in critical regions of the ryanodine receptor 1 protein. These mutations ... below). Most of these mutations change single amino acids in important regions of the ryanodine receptor 1 protein. These mutations ...
- ... from 352 to 441 protein building blocks (amino acids). A region of the protein called the microtubule-binding domain, ... 17). Some of these mutations change single amino acids in the tau protein, most often in the microtubule-binding region. These mutations reduce tau's ability to bind to ...
- ... with Jackson-Weiss syndrome changes a single amino acid in a region of the FGFR2 protein known as the IgIII ... this condition change the number of cysteine amino acids in a critical region of the FGFR2 protein known as the IgIII ...
- ... gene change a single protein building block (amino acid) in regions known as tyrosine kinase domains. Mutations in these ...
- ... the production of acids used in digestion (bile acids). Another region of the lamin B receptor, called the DNA- ...
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