mutation causes a single amino acid change in the protein, generally resulting in some functional protein.
The non-synonymous mutations (missense
and nonsense) of MC1R gene directly affect gain or loss of function that determine the dominant or partially dominent black/dark and recessive or partially recessive red/yellow or white coat color phenotypes, respectively.
Multiple mutations in GP Ib[alpha], GP Ib[beta], or GP IX leading to clinical expression of BSS are found including missense
, nonsense mutations and frame shift insertions or deletions resulting in defect in expression of the GP Ib-IX-V complex on platelets.4,5 BSS cases with isolated GPV gene mutation have not been reported in literature.6
Keywords: Congenital, Homeobox gene, Hypodontia, Missense
mutation, MSX1 gene.
The team also looked for biallelic missense
mutations, which involve a change in a single amino acid (a "spelling error").
To date, 77 variants have been reported, including 49 missense
, 11 nonsense, five gross deletions, four small insertions, four small deletions, three splicing variants and one gross insertion.
The researchers used a genetic sequencing procedure to examine genes in 16 women with African ancestry with CCCA who served as a discovery set; they identified four heterozygous mutations in the PAD 13 gene in 5 women, which included one splice site and three missense
Mutations in AR gene disrupt function of Androgen receptor, such as missense
amino acid substitutions, leading to diminished spermatogenesis and enhanced feminization of individual, resulting in complete androgen insensitivity syndrome.4
The vast majority of germline mutations occur as an Nterminal frameshift c.415_418dupGATG (p.D140Gfs*2), but other rare germline frameshift mutations or missense
variants have also been reported.
The first FLNC -related disease was described in 2005 when a nonsense mutation (c.G8130A, p.W2710X) in the FLNC rod domain was shown to cause skeletal and cardiac myopathy in a large German myofibrillar myopathy (MFM) family. A frameshift mutation in FLNC leads to haploinsufficiency in three presumably related Bulgarian families, as well as the missense
mutations (p.A193T; p.M251T) in the ABD of filamin-C, resulting in increased actin binding affinity in families from Australia and Italy and causing distal myopathies.
Based on our sequence analysis, the SNPs identified in three different sequences, the first and third were silent mutation and the second was missense
mutation, while other sample not showed any variation when compared to same breed (Fig.