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Exact(40)
Five beneficial mutations were identified, of which 1 mutation was located in the active cavity of the enzyme and contributed to the released substrate inhibition.
Therefore, we presumed that the mutation was located in the hip3+ gene, which was then characterized further.
Conventional strategies to rescue channel trafficking were unsuccessful despite the fact that the truncation mutation was located at the distal C-terminus.
In three cases this mutation was located in the LTR region; two of these mutations were transitions (G 224 A and G 368 A) and the third was a transversion (G 280 C).
Subsequently, various fragments of the open reading frames for the nine genes included in this region were PCR-amplified using the primers listed in Table S1 and then sequenced to determine where the mutation was located.
For the RP9 mutation, total RNA was isolated from fresh blood samples and iPS cells, and synthesized cDNA was subjected to PCR and direct sequencing to confirm whether the mutation was located in the RP9 gene or the pseudo-RP9 gene (paralogous variant).
Similar(20)
Ile408Val mutation is located in the cytoplasmatic tail.
This mutation is located in a splice lariat branch point sequence.
The G1485A mutation is located in an intron encoding splice site.
The third mutation is located in a different exon with distal spacing.
The p.Arg423His mutation is located in the highly conserved S4 domain of the channel.
More suggestions(15)
mutation was localized
mutation was investigated
mutation was separated
mutation was isolated
mutation was detected
mutant was located
mutation was described
mutation was confirmed
mutation was repeated
mutation were located
mutation was genotyped
mutation was introduced
mutation was named
mutation was identified
mutation was labeled
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