The paternally inherited known missense
We screened exon 13 of the KIT gene in the dominant white goat and black goat, and identified a single-base AaG point missense
mutation in all the samples (Fig.
mutation in the nuclear localization signal sequence of CERKL (p.
heterozygous variant found in LZTR1 in our patient is localized in KT1 domain.
The present study has established that omentin-1 gene Val109Asp (326 +A/T) missense
polymorphism is frequently present in both groups of current population, However, Homozygous genotype Asp/Asp was more often in control subjects (OR= 0.
The G769A mutation in human INHA gene should be one of the important causes increasing the likelihood of POF, which led to Ala257Thr missense
mutation in INHA with high statistical significance in POF (nine out of 80, 11.
mutations in the NLRP3 gene found in the chromosome region 1q44 are responsible for most cases of CAPS (20).
Among these eight putative substitutions, we detected one missense
A method and server for predicting damaging missense
Keywords: AZFa, Computational analysis, Male infertility, Missense
, nsSNP, UTY gene.
PPD is caused by mutations in the WISP3 gene and most common mutations are missense
(41%) and frameshift mutations (36%).
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.