Probable disease-associated mutation found in generalized non-inflammatory peeling skin syndrome type A; results in decreased enzyme activity; the mutant protein shows reduced glycosylation.
| Subject | Predicate | Object | Context |
|---|---|---|---|
| http://purl.uniprot.org/ann... | rdf:type | uniprot:Natural_Variant_Ann... | lld:uniprot |
| http://purl.uniprot.org/ann... | rdfs:comment | Probable disease-associated mutation found in generalized non-inflammatory peeling skin syndrome type A; results in decreased enzyme activity; the mutant protein shows reduced glycosylation. | lld:uniprot |
| http://purl.uniprot.org/ann... | rdfs:seeAlso | http://purl.uniprot.org/dbs... | lld:uniprot |
| http://purl.uniprot.org/ann... | uniprot:range | http://purl.uniprot.org/ran... | lld:uniprot |
| http://purl.uniprot.org/ann... | uniprot:substitution | W | lld:uniprot |
| uniprot-protein:Q9H2A9 | uniprot:annotation | http://purl.uniprot.org/ann... | lld:uniprot |
| http://linkedlifedata.com/r... | rdf:object | http://purl.uniprot.org/ann... | lld:uniprot |