Sentence examples for mutations that encode from inspiring English sources

Both carry mutations that encode a nonconservative changes and both changes are in the region of the protein that is proposed to interact with rad-23 (NCU07542), a protein suggested to be involved in nucleotide excision repair [15].

The mutations that encode the determinants for differential crow virulence are currently unknown.

The gene mutations that encode mutant NOD2 proteins, however, appear to be rare in patients with tuberculosis.

The mechanisms of mitochondrial dysfunction in certain gene mutations that encode mitochondrial rRNA or tRNA have recently been described.

Therefore, it is likely that truly null mutations of NBS1 (in homozygous state) do not cause Nijmegen syndrome, but only those mutations that encode partially active Nibrin (such as the 657del5 mutation) are pathogenic for the syndrome.

PAP-like diseases are due to genetic mutations that encode surfactant protein-B (SP-B) or SP-C leading to surfactant deficiency or abnormal production (oligomers and dimers), or a mutation of the gene encoding the membrane lipid transporter ABCA3 on type II pneumocytes, with accumulation of abnormal lamellar bodies [ 1, 10, 13– 17].

Two patients had distinct mutations that encoded a cysteine-to-serine substitution at position 481 of BTK (C481S) and the third patient acquired a potential gain-of-function mutation encoding a R665W substitution in PLCg2, a substrate of BTK, consistent with constitutive PLCg2 activation.

pSG3ΔEnv contains a four nucleotide insertion mutation that encodes a truncated gp120, without disrupting any of the known splicing regulatory cis elements.

This is a loss-of-function mutation that encodes a protein that is unable to bind to Lys63-linked ubiquitin chains (Gleason et al., 2011).

Of particular interest is an autosomal dominant cataractogenic mutation that encodes an arginine to lysine substitution at position 233 of AQP0.

For example, the C151T hotspot that encodes a null enzyme generates an overrepresentation of classic patients (Jinnah et al., 2000, 2006), and the recurrent G143A mutation that encodes a partially dysfunctional enzyme creates an overrepresentation of very mildly affected patients (Tables 1 and 2).