Neurofibromatosis 2 (NF2) mutation databases
Michael E. Baser, Ph.D.
1 September 2004


I. Summary of NF2 mutation databases

The international NF2 mutation database is maintained by Dr. Michael Baser. It has all published constitutional NF2 mutations, constitutional NF2 mutations from the United Kingdom NF2 registry, and unpublished constitutional NF2 mutations that are contributed by investigators from around the world. The United Kingdom NF2 registry, which is maintained by Professor Gareth Evans, is population-based and has more detailed clinical information than the international NF2 mutation database. The international NF2 mutation database also has all published somatic NF2 mutations in sporadic unilateral vestibular schwannomas, meningiomas, malignant mesotheliomas, and other types of sporadic tumors, as well as unpublished somatic NF2 mutations (505 sporadic tumors with identified NF2 mutations). Repeated reports of the same mutation in different families are included. The database has clinical data for people with NF2, and to a lesser extent, for people with sporadic tumors. Data from 168 published studies and 16 unpublished sources have been cross-referenced to integrate mutation and clinical information, and to avoid duplicate reporting of the same person.

Please contact Dr. Baser for more information. We encourage scientific collaborations and contributions of data to the international NF2 mutation database.

II. International NF2 mutation database: types of data for people with constitutional NF2 mutations

A. Mutation data

General type of mutation
Sequence change
Type of single base-pair substitution
Codon change
Exon location
Second hit (LOH, other identified mutation)
Somatic mosaic defined at the molecular level

B. Clinical data

Inheritance (new mutation or inherited case)
Age at onset of symptoms of NF2
Age at onset of hearing loss
Age at diagnosis of NF2
Age at last examination or age at death
Vestibular schwannomas (none, unilateral, bilateral)
Intracranial meningiomas (number)
Spinal tumors (number)
Peripheral nerve tumors (number)
Tumors of cranial nerves other than the VIII nerve (presence or absence)
Cataracts (presence or absence)

III. International NF2 mutation database: distribution of types of constitutional NF2 mutations

Type of Mutation
Number of People*
Number of Families
Frameshift deletion
Frameshift insertion
Splice donor site
Splice acceptor site
In-frame deletion
In-frame insertion
Large deletion
Large insertion
Chromosomal translocation

*1904 of the 1,112 people with identified constitutional NF2 mutations have clinical data (at least age at onset of symptoms of NF2, or age at diagnosis of NF2, or presence/number of intracranial meningiomas; other clinical data are usually available for people with clinical data). There is information on 568 other NF2 patients without identified constitutional NF2 mutations.

IV. International NF2 mutation database: unique constitutional NF2 single base-pair substitutions in NF2 coding regions (base pair numbering according to Rouleau et al., 1993)

A. Nonsense mutations

52 C>T, Gln18X
58 A>T, Lys20X
100 G>T, Glu34X
111 C>A, Cys37X
112 G>T, Glu38X
122 G>A, Trp41X
169 C>T, Arg57X
179 G>A, Trp60X
193 C>T, Gln65X
222 G>A, Trp74X
265 G>T, Glu89X
331 C>T, Gln111X
343 C>T, Gln115X
363 G>C, Gln121X
295 A>T, Lys299X
396 C>A, Tyr132X
432 C>G, Tyr144X
439 C>T, Gln147X
459 C>G, Tyr153X
493 C>T, Gln165X
531 T>A, Tyr177X
544 C>T, Glu182X
551 G>A, Trp184X
572 G>A, Trp191X
576 C>G, Tyr192X
586 C>T, Arg196X
592 C>T, Arg198X
616 C>T, Glu206X
663 C>G, Tyr221X
691 G>T, Glu231X
701 T>G, Leu234X
773 G>A, Trp258X
774 G>A, Trp258X
784 C>T, Arg262X
805 A>T, Lys269X
949 G>T, Glu317X
955 C>T, Gln319X
958 C>T, Gln320X
997 C>T, Gln333X
1021 C>T, Arg341X
1030 C>T, Gln344X
1069 G>T, Glu357X
1096 G>T, Glu366X
1114 G>T, Glu372X
1135 G>T, Glu379X
1165 C>T, Gln389X
1180 G>T, Glu394X
1198 C>T, Gln400X
1219 C>T, Gln407X
1228 C>T, Gln410X
1279 G>T, Glu427X
1282 C>T, Gln428X
1300 C>T, Glu434X
1357 C>T, Gln453X
1366 C>T, Gln456X
1387 G>T, Glu463X
1393 G>T, Glu465X
1396 C>T, Arg466X
1408 C>T, Gln470X
1443 C>G, Tyr481X
1570 G>T, Glu521X
1579 G>T, Gln527X
1606 C>T, Gln536X
1612 C>T, Gln538X

B. Missense mutations

107 A>G, Asn36>Ser
185 T>C, Phe62>Ser
191 T>C, Leu64>Pro
229 A>G, Met77>Val
422 T>G, Leu141>Pro
447 G>T, Lys149>Asn
589 G>T, Gly197>Cys
623 T>G, Leu208>Arg
655 G>A, Val219>Met
701 T>G, Leu234>Arg
947 T>G, Leu316>Trp
948 G>C, Leu316>Phe
1013 G>A, Arg338>His
1079 T>C, Leu360>Pro
1193 T>C, Leu398>Pro
1237 A>G, Lys413>Glu
1340 G>A, Arg447>Lys
1550 T>C, Leu517>Pro
1598 A>C, Lys533>Thr
1604 T>C, Leu535>Pro
1613 A>C, Gln538>Pro
1616 T>A, Leu539>His
1652 T>A, Leu542>His
1736 A>T, Lys579>Met