Mutations heterogeneity

Soussi, T. and Lozano, G. p53 mutation heterogeneity in cancer. Biochemical and Biophysical Research Communications 331, 834-842 (2005). 

To date, 15 GPI variants have been analyzed at the molecular level, and 16 mis-sense mutations, 1 nonsense mutation, and 1 splicing mutation due to a four-nucleotide deletion have been reported (Fig. 7) (B9, F13, K14, Wl, XI). The GPI gene mutations were heterogeneous, although most GPI variants had common biochemical characteristics such as heat instability and normal kinetic properties. We have determined the molecular abnormalities of four homozygous variants, GPI Matsumoto, GPI Iwate, GPI Narita, and GPI Fukuoka (K14). GPI Narita has a homozygous mutation from A to G at position 1028 (343 Gin to Arg), and the same mutation was reported in an Italian patient, GPI Moscone (B9). The substituted Gin is adjacent to the reported active site residue, 341 Asp. Homozygous missense mutations, C to T at position 14 (5 Thr to lie) and C to T at position 671 (224 Thr to Met) have been identified in GPI Matsumoto and GPI Iwate, respectively. GPI... 

The composition of myelin changes during development 68 Spontaneous mutations in experimental animals provide insights about the structure and assembly of myelin 68 Myelin components exhibit great heterogeneity of metabolic turnover 69... 

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