Sentence examples for mutation consists of from inspiring English sources

The point mutation consists of the conversion of guanine into thymine, which results in the replacement of a glycine by a valine at position 12 of the p21 protein encoded by the EJ and T24 genes.

The huntingtin gene HTT, whose mutation is responsible for 90% of HD phenotypes contains a trinucleotide (CAG) repeat in its first exon; the mutation consists of an abnormal expansion of the repeat beyond a threshold of 35 units.

A potential limitation of this study is that, because the human mutation consists of the deletion of one of four consecutive lysine residues, the mutant and wildtype cTnT proteins could not be differentially quantified in these transgenic mice.

The 2B mutation consists of a substitution of three nucleotides in the exon splicing enhancer of exon 7 (60).

The authors found that the mutation consists of a 76 bp segment (AT(A 28TAAAG(A)26GGAAATAATAATTCA) insertion into exon 12 of FXI on chromosome 27.

The mutation consists of a duplication of 89 kb ranging from intron 64 to 241 bp downstream of the DMD stop codon within the 3' UTR.

The NIa mutation consisted of an Asp to Ala substitution in the catalytic triad.

The cells bear a germline TSC2 mutation, consisting of a single base-pair change resulting in replacement of lysine 698 with a stop codon (K698X), as well as loss of heterozygosity (LOH), and do not express tuberin [15].

A single microsatellite locus, Stn49 showed a mutation consisting of a one base pair insertion.

The COMP gene mutation consisted of 22 cases (15 females, 7 males).

This mutation consisted of the addition of one repeat, increasing the size from 7 to 8 repeats.