Multiple mutations
January 6th, 2011 |Multiple DNA changes found in one allele
| Allele | Exon | Mutation | ALDP | Reference |
|---|---|---|---|---|
| p.Asn13Thr | 1 | c.38A>C | present | 32, 48 |
| p.Lys217Glu | 1 | c.649A>G | ||
| p.Lys16X | 1 | c.46A>T | n.d. | 33 |
| p.Arg236Cys | 1 | c.706C>T | ||
| p.Met67Val | 1 | c.199A>G | n.d. | 33 |
| c.Exon1_5del | 1-5 | deletion exons 1-5 | ||
| p.Ser108X | 1 | c.323C>A | n.d. | 86 |
| p.Arg259Trp | 1 | c.775C>T | ||
| p.Arg236His | 1 | c.707G>A | n.d. | 33 |
| p.Gln472fsX555 | 5 | c.1415_16delAG | ||
| p.Leu253Val | 1 | c.757C>G | n.d. | 33 |
| p.Ser606Leu | 8 | c.1817C>T | ||
| p.Arg236His | 1 | c.707G>A | absent | 53 |
| p.Gly512Ser | 6 | c.1534G>A | ||
| p.Arg274Trp | 1 | c.820C>T | n.d. | 33 |
| p.Arg280Cys | 1 | c.838C>T | ||
| p.Val409fsX? | IVS3 | c.1224+1GT>TG | n.d. | 33 |
| p.Arg389Cys | 3 | c.1165C>T | ||
| c.901-5c>a | IVS1 | c.901-5c>a | n.d. | 32 |
| p.Pro480Thr | 5 | c.1438C>A | ||
| p.Gln430X | 4 | c.1288C>T | n.d. | 33 |
| p.Arg464X | 4 | c.1390C>T | ||
| Ex5del | 5 | deletion of exon 5 | absent | Lachtermacher et al (unpublished data) |
| p.Pro546fsX? | IVS6 | 1635-2a>g | ||
Legend: All mutations are arranged according to their amino acid positions. All mutations are indicated conform to the nomenclature recommended by the Human Genome Variation Society. The column headed ALDP indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or protein blot analysis. (n.d.) = no data provided.
Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these mutations.
References
| 32 | J. Haasjes & P.A.W. Mooijer. Lab. Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands. Contact person: Dr. H.R. Waterham (e-mail h.r.waterham [at_symbol] amc.uva.nl). Unpublished data |
| 33 | The Peroxisomal Diseases Laboratory, The Kennedy Krieger Institute, Baltimore, MD, USA. Contact person: Dr. S.J.S. Steinberg (e-mail steinbergs [at_symbol] kennedykrieger.org). Unpublished data |
| 48 | Dvorakova et al., (2001) Hum Mutat 18(1):52-60 |
| 53 | Guimaraes et al., (2002) Mol Genet Metab 76(1):62-7 |
| 86 | Lan et al (2010) Clin Chim Acta |
