Intronic sequence is given in lower case. Where the start position of deletions or insertions are uncertain, the alternative ranges of bases affected are shown. Frameshift mutation is numbered only in relation to the cDNA sequence and not with respect to effects on the predicted protein product. All mutations are listed by the reference in which they were first reported, even if phenotypic information was reported in subsequent work. Unless otherwise noted, the reference given reports a single instance of the mutation.
Mutations listed in green are non-truncating.
Note that putative splicing events and non truncating base changes may not been confirmed to be pathogenic. In several instances the same non truncating mutation has been reported in two apparently unrelated individuals as listed. Large deletions affecting more then one exon and chromosomal re-arrangements are not listed on this map. Alternative phenotypes such as single schwannoma and schwannomatosis are given without notation as to severity. Our lack of knowledge about the natural history of the tumors associated with NF1 and NF2 also makes the evaluation of potential therapies difficult.