Biologically inactive growth hormone caused by an amino acid substitution.
نویسندگان
چکیده
منابع مشابه
Biologically inactive growth hormone caused by an amino acid substitution.
Short stature caused by biologically inactive growth hormone (GH) is characterized by lack of GH action despite high immunoassayable GH levels in serum and marked catch-up growth to exogenous GH administration. We found a heterozygous single-base substitution (A-->G) in exon 4 of the GH-1 gene of a girl with short stature, clinically suspected to indicate the presence of bioinactive GH and resu...
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GNPKVKAH Here we discuss standard ways of assigning a score to each amino acid pair, i.e., to each possible column of a gap-free pairwise protein alignment. Examples of such scoring matrices include the PAM30, PAM70, BLOSUM80, BLOSUM62 and BLOSUM45 matrices that are available on NCBI’s blastp server. Such scores are appropriate for comparing two sequences about which we have no other informatio...
متن کاملAmino Acid Substitution Scores
GNPKVKAH Here we discuss standard ways of assigning a score to each amino acid pair, i.e., to each possible column of a gap-free pairwise protein alignment. Examples of such scoring matrices include the PAM30, PAM70, BLOSUM80, BLOSUM62 and BLOSUM45 matrices that are available on NCBI’s blastp server. Such scores are appropriate for comparing two sequences about which we have no other informatio...
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The BLOSUM (BLOck SUbstitution Matrices) matrices were derived by Steven and Jorja Henikoff in 1992 1. They were based on a much larger data set than the PAM matrices, and used conserved local alignments or “blocks,” rather than global alignments of very closely related sequences. In order to account for different degrees of sequence divergence, the Henikoffs used clustering rather than an expl...
متن کاملAmino Acid Substitution Matrices
• Biophysical properties of residues: Amino acids differ in size and charge. Some are acidic, some are basic, some have aromatic side chains. Generally, replacement of an amino acid with another amino acid with similar properties is less likely to break the protein or cause dramatic changes in function than replacement with an amino acid with different properties. A substitution matrix should r...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1997
ISSN: 0021-9738
DOI: 10.1172/jci119627