missense


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mis·sense

(mis'ens),
As used in genetics, a mutation that causes a sequence such that there is a substitution of one amino acid residue for another.

missense

(mĭs′sĕns′)
adj.
Of or relating to a mutation that changes a codon for one amino acid into a codon for a different amino acid.
References in periodicals archive ?
The coding region of MSX1 exons was sequenced and analyzed through BioEdit, Chromas and Seqman software's and a missense mutation was found as shown in (fig-3).
Overall, the researchers estimate that these genes explain another 3 to 5 percent of all cases of autism (2 percent from loss-of-function mutations, and 1 to 3 percent from missense mutations).
The potential pathogenicity of the missense variant was analyzed by using MultAlin (http://multalin.toulouse.inra.fr/multalin/), PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/), Combined Annotation Dependent Depletion (CADD) (http://cadd.gs.washington.edu/), and MutationTaster (http://www.mutationtaster.org/).
A variety of RUNX1 mutations have been described, including frameshift or nonsense mutations or deletion throughout the gene as well as missense point mutations clustering within the highly conserved RUNT homology domain (RHD) and transactivation domain (TAD).
This is the first report of FLNC myopathy in Chinese patients caused by missense mutations.
(2004) study, which find that one SNP a missense 260G>A in exon I of GDF9 gene in Belclare and Cambridge Sheep breed (rs410123449), these SNPs substitutes one basic charged polar group Arginine to another polar charge (Histidine) at amino acid residue (87).
(9) calismasinda SMEB hastalarinda genelde missense mutasyon bulunmusken (%62,5), SMEI hastalarinda ise erken sonlanma, splice site ya da genomik degisiklikler (%64,5) izlenmistir.
Most of these alterations are heterozygous, locus c.76 in exon 3 is transversion with homozygous (G) variant in one of the mammary and CTVT samples, which is missense in nature and alter the leucine amino acid to valine.
A known missense mutation p.Y556C in exon 15 of SLC26A4 gene was identified in all the four families.
However, a heterozygous missense mutation was detected in HTRA1, i.e., HTRA1 (NM_ 002775.4) Exon4 c.905G>A p.
Type 2 is also divided into 3 subgroups, and that isolated unilateral or bilateral pheochromocytoma with missense mutations in the VHL is classified as VHL Type 2C (6).