Sentence examples for be a missense mutation from inspiring English sources

Each allele is predicted to be a missense mutation affecting a conserved residue in the conserved C-terminal region of DPY-21.

Several ALDH2 gene SNPs have been identified: among them, rs671 is a missense mutation, and the resultant mutant ALDH2*2 protein acts in a loss of function or dominant negative fashion17,18,19.

The rs1422795 SNP (ADAM 19 on 5q33,) is a missense mutation (Ser284Gly) in the ADAM 19 gene.

The point mutation is a missense mutation in the third exon consisting of a single nucleotide change from adenine to guanine at the 1795th position (AGC to GGC).

The allele ceh-36 ks86 ceh-36 ks86a missense mutation whicha severe effect [24], was tested at a 1/100 disution and also failed to elicit a response (not shown).

Dpol36a is a missense mutation in which a cysteine residue in a Ca2+ binding EGF motif is replaced with a tyrosine.

The rs1052486 SNP (BAT3 on 6p21,) is a missense mutation (Ser619Pro) in the BAT3 gene and has been previously linked to lung cancer [57].

The rs2070600 SNP (AGER on 6p21,) is a missense mutation (Gly82Ser) of the AGER gene and shown to affect the inflammatory response in humans [72].

This mutation, reported previously in a child with Leigh syndrome, is likely pathogenic as it is a missense mutation of the ND4 subunit of complex I that replaces a highly conserved tyrosine with histidine that, in turn, is predicted to markedly alter protein structure [61].

bn2 is a missense mutation, G296D, in the CP1 domain.

The rs384285149 mutation is a missense mutation affecting a highly conserved domain of EIF5A2.