Pathogenicity of novel missense mutations
was predicted using bioinformatics software programs such as SIFT (http://sift.
in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Following demonstration of the fact that three missense mutations
in the CARD15/NOD2 gene (R334Q, R334W, and L469F) cause Blau syndrome, different CARD15/NOD2 mutations have been identified through genotyping in many study groups of different ethnic origins (17).
Contemporarily missense mutations
at 264C>A, 131T>C and 829C > T, in the coding region of GJA8, cause p.
Among the heterogeneous PAH alleles, missense mutations
are the most common pathologic forms whereas small deletions, splice region variants, nonsense mutations, small insertions and large deletions occur much less frequently (16).
EBS affects more than 400,000 individuals worldwide and is usually linked to heterozygous missense mutations
in genes encoding keratins 5 and 14, Dr.
Copy number variation and missense mutations
of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors.
Thus, to inspect the potential association among the genetic mutation and phenotypic variation, different algorithms are used to compute the high risk missense mutations
in coding regions which may have impact on protein structure and/or function of UTY.
The results of the sequencing analyses for the 6 cases were as follows: in the first case, 4 missense mutations
were detected in exons 3 and 8.
A Polish cohort study identified frameshift and missense mutations
in the C19orf12 gene.
Mutations most often seen in the MTHFR gene, in particular C677T and A1298C missense mutations
, have been found to have a relationship with cerebrovascular diseases.
In addition, we detected two missense mutations
that have been previously reported: p.