Analyzing Effects of Naturally Occurring Missense Mutations
نویسندگان
چکیده
منابع مشابه
Analyzing Effects of Naturally Occurring Missense Mutations
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid seque...
متن کاملNaturally occurring HCA1 missense mutations result in loss of function: potential impact on lipid deposition.
The hydroxy-carboxylic acid receptor (HCA1) is a G protein-coupled receptor that is highly expressed on adipocytes and considered a potential target for the treatment of dyslipidemia. In the current study, we investigated the pharmacological properties of naturally occurring variants in this receptor (H43Q, A110V, S172L, and D253H). After transient expression of these receptors into human embry...
متن کاملEffects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity
d-bifunctional protein (d-BP) deficiency is thought to lead to severe lipid metabolism disorders. To investigate the effect of naturally occurring missense mutations in the hydratase domain in d-BP, we constructed several d-BP hydratase variants and measured their activities. Missense mutations at sites whose conservation rates among 30 eukaryotes were < 70% did not affect hydratase activity. W...
متن کاملFunctional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT). All but one mutation altered a restriction site in the URO-D gene, permitting identification of affected relatives using a combination of polymerase chain rea...
متن کاملNaturally occurring ehrlichiosis in Egyptian dogs
Canine ehrlichiosis has emerged as one of the most clinically important tick-borne diseases affecting dogs. Eighty-five naturally infected dogs have been investigated, the most consistent clinical signs recorded were fever, emaciation and lymphoadenopathy, anemia, monocytosis, thrompocytopenia, hypoalbuminemia, elevation in liver enzymes and total bilirubin were the most remarkable changes asso...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Computational and Mathematical Methods in Medicine
سال: 2012
ISSN: 1748-670X,1748-6718
DOI: 10.1155/2012/805827