Werner Syndrome Mutational Database

Mutation 026

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2242C>T

Protein notation: p.Q748X

Location: exon 19, helicase domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 026

Werner syndrome Registry #: AG03141

Huang et al. mutation #: 26

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: Choi et al., 2001