Large deletion mutations

Fig. 2 Schematic representation of the V2 receptor and identification of 193 putative disease-causing AVPR2 mutations. Predicted amino acids are shown as the one-letter amino acid code. A solid symbol indicates a codon with a missense or nonsense mutation a number indicates more than one mutation in the same codon other types of mutations are not indicated on the figure. There are 95 missense, 18 nonsense, 46 frameshift deletion or insertion, 7 inframe deletion or insertion, 4 splice-site, and 22 large deletion mutations, and 1 complex mutation. The gain-of-function mutations affecting codons R137 and F229 are indicated...

Androgen Endogenous testosterone Androgen insensitivity Missense mutations, large deletions, and... 

Armour JA, Barton DE, Cockburn DJ, Taylor GR. The detection of large deletions or duplications in genomics DNA. Hum Mutat 2002 20 325-337. 

GENE MUTATION Mutation due to a molecular change in a gene, as opposed to a large chromosomal mutation includes point mutations and intragenic deletions. 

The next more complex type of mutation is referred to as an addition or deletion mutation. In a deletion mutation, one or more bases are removed from the DNA. In an addition mutation, one or more bases are added to the DNA. Addition mutations are also called insertion mutations. Deletion mutations are called small deletions if only a few bases are deleted from the DNA, or large deletions if many bases are deleted from the DNA. The same considerations hold for small-addition and large-addition mutations. 

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