ABCD1 p.Arg401Gly
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PMID: 22479560
[PubMed]
Pereira Fdos S et al: "Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy."
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Comment
55
NBF ND Northern Brazil 52/Male CALD p.Arg401Gly # E3 Missense c.1201C.G CGG.GGG - Inherited Southern Brazil 54/Female CALD p.Ser358fsX42 # E2 Frameshift+stop codon c.1074_1075insA Truncated TMD ND Northern Brazil 55/Female AMN p.Gly510Ser (http://www.x-ald.nl) E6 Missense c.1528G.A GGC.AGC NBF ND Northern Brazil 56/Male CALD p.Asp200Asn (Takano H et al., 1999) E1C Missense c.528G.A GAC.AAC TMD Inherited Northern Brazil 57/Male CALD p. Pro560Leu (Braun A et al., 1995) E7 Missense c.1679C.T CCG.CTG NBF Inherited Northern Brazil The number of family: the registration number in records of our lab. AMN: adrenomyeloneuropaty; AO: Addison only; #: new mutations identified in this study; NBF: nucleotide-binding fold; TMD: Transmembrane Domin; ND: not determined.
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ABCD1 p.Arg401Gly 22479560:55:38
status: NEW90 The remaining four novel sequence variations (p.Pro623Leu, p.Leu628Glu, p.Ile481Phe and p.Arg401Gly), if not causative of the disease, were linked to X-ALD genotype by DNA study of hemizygous affected males.
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ABCD1 p.Arg401Gly 22479560:90:90
status: NEW91 PolyPhen analysis of the four novel missense mutations considered three of them to be ''probably damaging`` p.Arg401Gly (PSIC score 3.071), p.Pro623Leu (PSIC score 3.379), and p.Leu628Glu (PSIC score 2.417), whereas p.Ile481Phe was considered ''benign`` Figure 1.
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ABCD1 p.Arg401Gly 22479560:91:110
status: NEW