Werner Syndrome Mutational Database

Mutation 003

Mutation description:

Molecular type: substitution deletion insertion

Nucleotide notation: c.375A>T

Protein notation: p.K125N

Location: exon 5, exonuclease domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 003

Werner syndrome Registry #: STUTT1010

Huang et al. mutation #: 3

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0010

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: German

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006