ABCD1 p.Leu516Pro
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PMID: 21889498
[PubMed]
Shukla P et al: "Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
68
Six reported mutations, c.1202 GNA (p.Arg401Gln), c.1679 CNT (p.Pro560Leu), c.1816 TNC (p.Ser606Pro), 1547 TNC (p. Leu516Pro), c.1780+2 TNG (p.Gly593fs), c.1979 GNA (p.Arg660Gln) were found in eight patients (Fig. 1a, b, c and d).
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ABCD1 p.Leu516Pro 21889498:68:115
status: NEW73 Data analysis Results of data analysis done by PolyPhen tool for the missense mutations found in X-ALD patients showed all missense changes, c.1202 GNA (p.Arg401Gln), c.1679 CNT (p.Pro560Leu), c.1816 TNC (p.Ser606Pro), c.1547 TNC (p.Leu516Pro) c.1979 GNA (p.Arg660Gln) as probably damaging (Table 3).
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ABCD1 p.Leu516Pro 21889498:73:233
status: NEW105 The missense change, 1547 TNC (p.Leu516Pro) in exon 6 was also reported by other groups (unpublished data, www.x-ald.nl).
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ABCD1 p.Leu516Pro 21889498:105:33
status: NEW132 b. CSGE gel showing shift in exon 6 in patient A12 and electropherogram showing c.1547 TNC (p.Leu516Pro) mutation.
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ABCD1 p.Leu516Pro 21889498:132:94
status: NEW