OMIM Mutations Search

Simple search of OMIM mis-sense mutation data providing links to validated residue numbers in UniProtKB/SwissProt.

PLEASE NOTE: The OMIM data on which this page is based are the dataset from 22nd February, 2011 - the last public release of OMIM as archived at the NCBI. OMIM have since changed their licensing conditions meaning that we can no longer update this resource.


OMIM ID: e.g. 102560, 107300, 109270
SwissProt Accession: e.g. P02708, P49768, P02649
OMIM Phenotype information: e.g. G6PD, OTC, diabetes, albumin, alzheimer

Sort by: OMIM SwissProt/residue



Download the complete validated mapping:



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