Werner Syndrome Mutational Database

Mutation 033

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2959C>T

Protein notation: p.R987X

Location: exon 24, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 033

Werner syndrome Registry #: SWISS1010

Huang et al. mutation #: 33

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Swiss

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006