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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. [1] Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation.
Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene are a rare genetic cause of hypertrophic cardiomyopathy. A recent study has indicated that a frameshift mutation (c ...
Consequently, the underlying pathology of diseases caused by nonsense mutations is ultimately dependent on the identity of the mutated gene, and specific location of the mutation. Examples of diseases induced by nonsense mutations include: Cystic fibrosis (caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator ...
The OMIM database describes the association between polymorphisms and diseases (e.g., gives diseases in text form) dbSAP – single amino-acid polymorphism database for protein variation detection [59] The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs
A missense mutation changes a nucleotide to cause substitution of a different amino acid. This in turn can render the resulting protein nonfunctional. Such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1-mediated ALS. [53]
When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3]
Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations , in which a codon is changed to a premature stop codon that results in truncation of the resulting protein , and the nonstop mutations , in which a stop codon erasement results in a longer ...