Werner Syndrome Mutational Database

Mutation 006

Mutation description:

Molecular type: deletion

Nucleotide notation: c.502_503delAA

Protein notation: p.K167fsX177

Location: exon 5, exonuclease domain

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 006

Werner syndrome Registry #: n/a

Huang et al. mutation #: 6

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CD972512

Japanese mutation #: 10

Supplementary information

Patient ethnicity data: Japanese

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Matsumoto et al., 1997