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Exact(8)
pSG3ΔEnv contains a four nucleotide insertion mutation that encodes a truncated gp120, without disrupting any of the known splicing regulatory cis elements.
Of particular interest is an autosomal dominant cataractogenic mutation that encodes an arginine to lysine substitution at position 233 of AQP0.
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).
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).
Tester flies were fixed for an autosomal recessive mutation that encodes brown eyes, and thus the presence of wild-type (red eyed) offspring indicated individuals sired by the focal males, and brown-eyed offspring indicated those sired by the tester males.
These were created by nonreciprocally crossing two near-isogenic lines [derived from a replica of the LHM population fixed for an autosomal recessive mutation that encodes brown eyes (Friberg and Dowling 2008)].
Similar(52)
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.
Related(20)
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transformation that encodes
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