Frameshift mutation and missense mutation
have been regarded as 'loss of function mutations.
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.
A missense mutation
in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
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.
So, this study might be helpful in understanding the effect of missense mutation
on protein function of UTY in relation with infertility in men.
Novel missense mutation
in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.
The DNA extracted from peripheral blood and Sanger sequencing, demonstrated a heterozygous missense mutation
One participant, a 67-year old woman with an HDL of 152 mg/dL (about 3 times normal), was homozygous for a P376L missense mutation
Although the cytosine residue at nt 490 was not changed in comparison with the parental strain, we found a further missense mutation
at nt 491 (G491C, Arg164Pro) of the cps2F gene in NL119 P3 and P4 (Figure 1, panel A).
10) Although common etiological factors for both RCC and melanoma are not well-established, there are several possible links between these cancers, including: 1) exposure to shared environmental risk factors, such as obesity; (11) 2) shared genetic abnormalities, such as a common missense mutation
in microphthalmia-associated transcription factor, (12) alterations in the CDKN2A gene encoding p16INK4a, (13) and increased association of familial RCC and melanoma; (14) 3) alterations in the MAPK pathway; (15) 4) alterations in cell-mediated immunity; (16) and 5) increased medical surveillance leading to increased incidental detection of RCC.
In brief, we demonstrated a new missense mutation
in CLCN1 gene in a patient with congenital myotonia.
Factor H and Factor I will be normal in cases where the mutation is either a deletion or missense mutation