Werner Syndrome Mutational Database

Mutation 029

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2665C>T

Protein notation: p.R889X

Location: exon 22, RQC domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 029

Werner syndrome Registry #: see table

Huang et al. mutation #: 29

Uhrhammer mutation #: 1053-1

OMIM mutant allele #: n/a

HGMD mutation #: CM961464

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