New mutations
October 24th, 2011 |New mutations added to the database
| Entry Date | Allele | Exon | Mutation | N | ALDP | Reference |
|---|---|---|---|---|---|---|
| Oct 24 2011 | p.Glu302Lys | 2 | c.904G>A | 1 | present | 72 |
| Oct 24 2011 | p.Lys665Glu | 10 | c.1993_95delinsGAG | 1 | present | 72 New mutation |
| Aug 15 2011 | p.Pro42fsX25 | 1 | c.125delC | 1 | n.d. | 96 New mutation |
| Aug 15 2011 | p.Phe83fsX20 | 1 | c.248delT | 1 | n.d. | 33 New mutation |
| Aug 15 2011 | p.Tyr296Ser | 1 | c.887A>C | 1 | n.d. | 33 New mutation |
| Aug 15 2011 | p.Val365fsX35 | 3 | c.1092_93insA | 1 | n.d. | 33 New mutation |
| Aug 15 2011 | p.Lys372X | 3 | c.1114A>T | 1 | n.d. | 33 New mutation |
| Aug 15 2011 | p.Val409fsX? | IVS3 | 1225-2a>g | 1 | n.d. | 96 New mutation |
| Aug 15 2011 | p.Gln472fsX83 | 5 | c.1415_16delAG | 2 | n.d. | 33 |
| Aug 15 2011 | p.Gly510Asp | 6 | c.1529G>A | 1 | n.d. | 33 |
| Aug 15 2011 | p.Arg518Trp | 6 | c.1552C>T | 1 | n.d. | 33 |
| Aug 15 2011 | p.Gly677Asp | 10 | c.2030G>A | 1 | n.d. | 96 New mutation |
| Jun 15 2011 | p.Leu134Arg | 1 | c.401T>G | 1 | n.d. | 95 New mutation |
| Jun 6 2011 | p.Glu291del | 1 | c.874-76delGAG | 1 | n.d. | 33 |
| May 2 2011 | p.Ser108Leu | 1 | c.323C>T | 1 | n.d. | 33 |
| May 2 2011 | p.Leu493Pro | 5 | c.1478T>C | 1 | n.d. | 33 New mutation |
| May 2 2011 | p.Leu516Pro | 6 | c.1547T>C | 1 | n.d. | 33 |
| May 2 2011 | p.Pro543Leu | 6 | c.1628C>T | 1 | n.d. | 33 |
| May 2 2011 | p.Gln544Arg | 6 | c.1631A>G | 1 | n.d. | 33 |
| Mar 22 2011 | p.Arg124Pro | 1 | c.371G>C | 1 | n.d. | 33 New mutation |
| Mar 22 2011 | p.Trp132X | 1 | c.395G>A | 1 | n.d. | 94 |
| Mar 22 2011 | p.Arg152Cys | 1 | c.454C>T | 1 | n.d. | 33 |
| Mar 22 2011 | p.Tyr559Cys | 7 | c.1676A>G | 1 | n.d. | 33 New mutation |
| Feb 15 2011 | p.Glu90fsX103 | 1 | c.270-271delGA | 1 | n.d. | 93 New mutation |
| Feb 15 2011 | p.Ala141Thr | 1 | c.421G>A | 1 | n.d. | 93 |
| Feb 15 2011 | p.Tyr174Cys | 1 | c.521A>G | 1 | n.d. | 93 |
| Feb 15 2011 | p.Gly266Arg | 1 | c.796G>A | 1 | n.d. | 93 |
| Feb 15 2011 | p.Arg280Leu | 1 | c.839G>T | 1 | n.d. | 93 |
| Feb 15 2011 | p.His283Asp | 1 | c.847C>G | 1 | n.d. | 93 |
| Feb 15 2011 | p.Ala314Pro | 2 | c.940G>C | 1 | n.d. | 93 New mutation |
| Feb 15 2011 | p.Gly343Val | 2 | c.1028G>T | 1 | n.d. | 93 |
| Feb 15 2011 | p.Arg401Gln | 3 | c.1202G>A | 1 | n.d. | 93 |
| Feb 15 2011 | p.Gln472fsX83 | 5 | c.1415_16delAG | 1 | n.d. | 93 |
| Feb 15 2011 | p.Gly512Ser | 6 | c.1534G>A | 1 | n.d. | 93 |
| Feb 15 2011 | p.Pro560Leu | 7 | c.1679C>T | 1 | n.d. | 93 |
| Feb 15 2011 | p.Lys602X | 8 | c.1804A>T | 1 | n.d. | 93 New mutation |
| Feb 15 2011 | p.Cys631Tyr | 9 | c.1892G>A | 1 | n.d. | 93 |
| Feb 01 2011 | p.Glu477fsX80 | 5 | c.1430delA | 1 | n.d. | 91 New mutation |
| Jan 07 2011 | p.Pro84Ser | 1 | c.250C>T | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | p.Leu107fsX90 | 1 | c.319delC | 1 | n.d. | 33 New mutation |
| Jan 07 2011 | p.Ser108Leu | 1 | c.323C>T | 2 | n.d. | 90 |
| Jan 07 2011 | p.Gly116Glu | 1 | c.347G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Ala141Thr | 1 | c.421G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Pro143Ser | 1 | c.427C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Arg152Ser | 1 | c.454C>A | 1 | n.d. | 33, 90 |
| Jan 07 2011 | p.Arg152Cys | 1 | c.454C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Leu154Pro | 1 | c.461T>C | 1 | n.d. | 88 |
| Jan 07 2011 | p.Ser161X | 1 | c.482C>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Tyr174Ser | 1 | c.521A>C | 1 | n.d. | 88 |
| Jan 07 2011 | p.Tyr174Cys | 1 | c.521A>G | 1 | n.d. | 88 |
| Jan 07 2011 | p.Gln177X | 1 | c.529C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Tyr181Cys | 1 | c.542A>G | 1 | n.d. | 88 |
| Jan 07 2011 | p.Asp200fsX15 | 1 | c.598delC | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | p.Thr254Pro | 1 | c.760A>C | 1 | n.d. | 90 |
| Jan 07 2011 | p.Gly266Arg | 1 | c.796G>A | 2 | n.d. | 88 |
| Jan 07 2011 | p.Gly277Arg | 1 | c.829G>A | 1 | n.d. | 90 |
| Jan 07 2011 | p.His283Arg | 1 | c.848A>G | 1 | n.d. | 89 New mutation |
| Jan 07 2011 | p.Ser290Trp | 1 | c.869C>G | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | p.Tyr296Cys | 1 | c.887A>G | 1 | n.d. | 88 |
| Jan 07 2011 | p.Leu313Pro | 2 | c.938T>C | 2 | n.d. | 33, 90 New mutation |
| Jan 07 2011 | p.Phe385fsX7 | 3 | c.1155delC | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | p.Leu392Val | 3 | c.1174C>G | 1 | n.d. | 88 |
| Jan 07 2011 | p.Arg401Trp | 3 | c.1201C>T | 2 | n.d. | 88 |
| Jan 07 2011 | p.Arg401Gln | 3 | c.1202G>A | 2 | n.d. | 88 |
| Jan 07 2011 | p.Gln472fsX83 | 5 | c.1415_16delAG | 4 | n.d. | 88, 90 |
| Jan 07 2011 | p.Ile474Thr | 5 | c.1421T>C | 1 | n.d. | 88 |
| Jan 07 2011 | p.Gly507Asp | 6 | c.1520G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Gly512Ser | 6 | c.1534G>A | 3 | n.d. | 88 |
| Jan 07 2011 | p.Arg518Trp | 6 | c.1552C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Arg518Gln | 6 | c.1553G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Gln544Arg | 6 | c.1631A>G | 1 | n.d. | 88 |
| Jan 07 2011 | p.Arg554His | 7 | c.1661G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Pro560Leu | 7 | c.1679C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Gln590X | 7 | c.1768C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Glu609Lys | 8 | c.1825G>A | 1 | n.d. | 88 |
| Jan 07 2011 | p.Ala616Asp | 8 | c.1847C>A | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | p.Arg617Cys | 8 | c.1849C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Arg617His | 8 | c.1850G>A | 3 | n.d. | 88 |
| Jan 07 2011 | p.Ala646Pro | 9 | c.1936G>C | 1 | n.d. | 33 |
| Jan 07 2011 | p.Arg660Trp | 9 | c.1978C>T | 2 | n.d. | 88 |
| Jan 07 2011 | p.His667Asp | 10 | c.1999C>G | 1 | n.d. | 90 |
| Jan 07 2011 | p.Gln672X | 10 | c.2014C>T | 1 | n.d. | 88 |
| Jan 07 2011 | p.Glu676X | 10 | c.2026G>T | 1 | n.d. | 33 |
| Jan 07 2011 | p.Trp679Arg | 10 | c.2035T>C | 1 | n.d. | 88 |
| Jan 07 2011 | exon2-10del | exon2-10 | exon2-10del | 1 | n.d. | 90 New mutation |
| Jan 07 2011 | exon3-10del | exon3-10 | exon3-10del | 1 | n.d. | 88 |
| Jan 07 2011 | exon8-10del | exon8-10 | exon8-10del | 2 | n.d. | 88 |
Legend: All mutations are arranged according to their amino acid positions. The column headed ALDP indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and/or immunoblotting. (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 |
| 72 | Kumar, et al., (2011) PLoS One |
| 87 | Miyoshi et al (2010) Endocr J |
| 88 | Shimozawa et al (2010) J Hum Genet |
| 89 | Xie et al (2010) Zhonghua Yi Xue Yi Chuan Xue Za Zhi |
| 90 | Matsukawa et al (2010) Neurogenetics |
| 91 | Valadares et al (2011) Genet Mol Res |
| 92 | Kumar et al (2010) J Genet |
| 93 | Lan et al (2011) Clin Chim Acta |
| 94 | Soardi et al (2010) Arq Bras Endocrinol Metabol |
| 95 | Dr I.C. Verma, Dr R. Saxena , Dr S. Kohli & Dr S. Bijarnia. Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India – 110060. Contact person: Dr. Renu Saxena (e-mail: renu2006 [at_symbol] gmail.com). Unpublished data |
| 96 | Wang et al (2011) Mol Genet Metab |
