Werner Syndrome Mutational Database

Mutation 028

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2581C>T

Protein notation: p.Q861X

Location: exon 21, helicase domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 028

Werner syndrome Registry #: ASHE1010

Huang et al. mutation #: 28

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: USA

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006