ABCD1 p.Arg104Pro
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PMID: 24788897
[PubMed]
Durmaz A et al: "Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation."
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The male patient was found to be hemizygous for a novel mutation, p. R104P.
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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