ABCD1 p.Arg104Pro
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Molecular analysis in X-linked adrenoleukodystroph... Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1. Durmaz A, Atik T, Onay H, Canda EE, Ucar SK, Bademkiran F, Coker M, Cogulu O, Ozkinay F
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1., [PMID:24788897]
Abstract [show]
X linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs). It is caused by mutations in ABCD1 gene located at Xq28. More than 1,300 mutations have been identified to date which is unique to each patient. In this study we report the mutational analysis of 2 X-ALD patients (1 male and 1 female) showing variable clinical spectrum. The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. The male patient was found to be hemizygous for a novel mutation, p. R104P. In conclusion, while defining a novel mutation, the cases presented herein may contribute to the mutation and clinical spectrum of X-ALD.
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No. Sentence Comment
5 The male patient was found to be hemizygous for a novel mutation, p. R104P.
X
ABCD1 p.Arg104Pro 24788897:5:69
status: NEW48 Mutational analysis revealed a novel hemizygous p. R104P mutation (Figs.
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ABCD1 p.Arg104Pro 24788897:48:51
status: NEW62 In our study p. R104P, IVS5-6delC (c.1489-6delC) and p. P543L mutations were detected.
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ABCD1 p.Arg104Pro 24788897:62:16
status: NEW63 In case 1 mutational analysis revealed a novel hemizygous p. R104P mutation.
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ABCD1 p.Arg104Pro 24788897:63:61
status: NEW64 SIFT predicted that the substitutions at position R104 damage the protein function with a score of Fig. 2 Cranial MR of the case 1 showing homogenous hyperintens regions in the bilateral occipital regions and splenium of corpus collosum Fig. 3 The prediction of the mutation effect by PolyPhen and SIFT software programs showing a damaging effect of the p. R104P mutation (SIFT score: 0 with a prediction: damaging and PolyPhen score: 1.0 with a prediction: probably damaging) Metab Brain Dis (2014) 29:809-812 811 0.00, suggesting that this mutation is damaging (Ng and Henikoff 2006).
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ABCD1 p.Arg104Pro 24788897:64:357
status: NEW65 PolyPhen predicted that p. R104P is probably damaging with a score of 1.00 (Adzhubei et al. 2010) (Fig. 3).
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ABCD1 p.Arg104Pro 24788897:65:27
status: NEW69 Regarding previously reported cases with mutations in the same codon, the novel p. R104P mutation is considered as being disease causing.
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ABCD1 p.Arg104Pro 24788897:69:83
status: NEW