Werner Syndrome Mutational Database

Mutation 011

Mutation description:

Molecular type: deletion

Nucleotide notation: c.1165delA

Protein notation: p.E388fsX392

Location: exon 9

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 011

Werner syndrome Registry #: see table

Huang et al. mutation #: 11

Uhrhammer mutation #: 284-18, 1239-1, 1558-1

OMIM mutant allele #: 277700.0006

HGMD mutation #: CD962189

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; Meissilitzer et al., 1997