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In 7 of the 14 exonic occurrences, the variant caused a coding change and thus could prove deleterious.
This again could be explained by the fact that the W890R variant caused a weaker reduction of the FRMD7 CASK interaction compared with the other nystagmus-associated CASK mutants tested (Fig. 8).
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The IRS-1 non-synonymous variant caused an amino acid change from Cysteine to Tyrosine.
"There are gaps, and we need to remember that a genetic variant causing a disorder might be in one of those gaps," says Ellard.
The variant causes a proline to be replaced with a serine in its derived state.
We demonstrate that this variant causes a defect in neuromuscular synaptogenesis.
This variant causes a non-conservative amino acid change from p. (G6S) of the main isoform.
Taken together, these findings suggest that this variant causes a significant yet incomplete loss of BRCA1 function.
10– 14 Some studies suggested a loss of lipase function by I148M genetic variant, 11– 13 but a recent report suggested I148M genetic variant causes a gain of lipogenic function.
This result, observed in association with 21 variants, is highly suggestive of a variant causing a structural effect on the mutant protein, impairing secretion.
We found a variant causing a g→c change at nucleotide 175 in the 5'-UTR of RhoH, a gene prone to aberrant hypermutation activity in lymphomas [ 30].
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