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The protein is necessary for the negative regulation of Ras protein signal;
telling us that neurofibromin acts as a tumor suppressor
45 mutations within the NF1 gene are associated with neurofibromatosis type 1
Mutations in this exon involves an insertion of cytosine into codon 5662 and
resulted in an early stop codon.
Another mutation in exon 2 is from the insertion of the amino acid thymidine at
nucleotide 5678, which also creates an early stop codon.