and non-sense) based on NCBI accession number Y13958 as reference.
The coding region of MSX1 exons was sequenced and analyzed through BioEdit, Chromas and Seqman software's and a missense
mutation was found as shown in (fig-3).
Overall, the researchers estimate that these genes explain another 3 to 5 percent of all cases of autism (2 percent from loss-of-function mutations, and 1 to 3 percent from missense
The potential pathogenicity of the missense
variant was analyzed by using MultAlin (http://multalin.toulouse.inra.fr/multalin/), PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/), Combined Annotation Dependent Depletion (CADD) (http://cadd.gs.washington.edu/), and MutationTaster (http://www.mutationtaster.org/).
A variety of RUNX1 mutations have been described, including frameshift or nonsense mutations or deletion throughout the gene as well as missense
point mutations clustering within the highly conserved RUNT homology domain (RHD) and transactivation domain (TAD).
This is the first report of FLNC myopathy in Chinese patients caused by missense
(2004) study, which find that one SNP a missense
260G>A in exon I of GDF9 gene in Belclare and Cambridge Sheep breed (rs410123449), these SNPs substitutes one basic charged polar group Arginine to another polar charge (Histidine) at amino acid residue (87).
(9) calismasinda SMEB hastalarinda genelde missense
mutasyon bulunmusken (%62,5), SMEI hastalarinda ise erken sonlanma, splice site ya da genomik degisiklikler (%64,5) izlenmistir.
Most of these alterations are heterozygous, locus c.76 in exon 3 is transversion with homozygous (G) variant in one of the mammary and CTVT samples, which is missense
in nature and alter the leucine amino acid to valine.
A known missense
mutation p.Y556C in exon 15 of SLC26A4 gene was identified in all the four families.
However, a heterozygous missense
mutation was detected in HTRA1, i.e., HTRA1 (NM_ 002775.4) Exon4 c.905G>A p.
Type 2 is also divided into 3 subgroups, and that isolated unilateral or bilateral pheochromocytoma with missense
mutations in the VHL is classified as VHL Type 2C (6).