Sentence examples for mutation resides in from inspiring English sources

Laboratory tests may show whether the mutation resides in a gene (this will always be the case when using WES) or in a regulatory area.

The mutation resides in subdomain VIa.

We found that the xav mutation resides in ETFDH, which is critical for fatty acid, amino acid and choline metabolism.

We have found that the srn mutation resides in GDP-mannose 4, 6-dehydratase (GMDS), the first and rate-limiting enzyme in the fucose metabolism pathway.

Here, we report that the dis3-54 mutation resides in the Dis3 RNB domain, and that the mutant protein contains a reduced RNase activity.

The genetrap mutation resides in the sixth intron of the Bcor gene and results in a loss of function allele we named BcorGt.

In another work, a rare mutation residing in MAPT (A152T) was found to increase the risk of AD (OR = 2.3, P = 0.004) [38].

This missense mutation residing in exon 6 (Fig. S1a) is the most frequently encountered gene defect causing desminopathies and leads to a single amino acid exchange from arginine to proline at position 350, which represents a b position in the heptad pattern characteristic for coiled coil forming α-helices.

The causal mutation resides deep in intron 13 of Ank1, causing incomplete alternative splicing of the transcript that preserved the production of wild-type ankyrin-1 protein at a reduced level in homozygous animals.

Several SMA patient mutations residing in the N-terminus revealed a reduction in calpain susceptibility.

Although many SMA missense mutations reside in exons 6 and 7 of SMN1, others have been identified in exons 1-4.