Werner Syndrome Mutational Database

Mutation 014

Mutation description:

Molecular type: deletion

Nucleotide notation: c.1389T>A

Protein notation: p.Y463X

Location: exon 11

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 014

Werner syndrome Registry #: n/a

Huang et al. mutation #: 14

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CM971590

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Japanese

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Matsumoto et al., 1997