Werner Syndrome Mutational Database

Mutation 021

Mutation description:

Molecular type: deletion

Nucleotide notation: c.2089_2825del

Protein notation: p.M696fsX705

Location: exon 19-23, helicase domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 021

Werner syndrome Registry #: see table

Huang et al. mutation #: 21

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a

References

Published descriptions/references: Oshima et al., 1996; Yu et al., 1997