Home Query References Browse Contact

1 patient data entry in database for mutations P648R and P587L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
44P648R5
T251I
P587L2
Ptosis, oculopharyngeal muscular dystrophy-like, pigmentary retinopathy.
-ptosis
adult
5967n/aFerreira et al, 2011;

[view data]

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: