| http://purl.uniprot.org/citations/14684684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14684684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14684684 | http://www.w3.org/2000/01/rdf-schema#comment | "Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the DFNA20/26 locus at 17q25-qter. The 6-cM critical region harboured the gamma-1-actin (ACTG1) gene, which was considered an attractive candidate gene because actins are important structural elements of the inner ear hair cells. In this study, a Thr278Ile mutation was identified in helix 9 of the modelled protein structure. The alteration of residue Thr278 is predicted to have a small but significant effect on the gamma 1 actin structure owing to its close proximity to a methionine residue at position 313 in helix 11. Met313 has no space in the structure to move away. Moreover, the Thr278 residue is highly conserved throughout eukaryotic evolution. Using a known actin structure the mutation could be predicted to impair actin polymerisation. These findings strongly suggest that the Thr278Ile mutation in ACTG1 represents the first disease causing germline mutation in a cytoplasmic actin isoform."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.40.12.879"xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.40.12.879"xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Kremer H."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Kremer H."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Cremers C.W.R.J."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Cremers C.W.R.J."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "De Leenheer E.M.R."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "De Leenheer E.M.R."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Huygen P.L.M."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Huygen P.L.M."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Kemperman M.H."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Kemperman M.H."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Krieger E."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "Krieger E."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "van Wijk E."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/author | "van Wijk E."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/14684684 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |