ABCD1 p.Gly510Ser
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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."
No.
Sentence
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.
X
ABCD1 p.Gly510Ser 22479560:55:229
status: NEW114 Her VLCFA profile was highly suggestive of a heterozygous state for X-ALD; the molecular analysis revealed the presence of the mutation p.GLy510Ser in one of her alleles (Table 2).
X
ABCD1 p.Gly510Ser 22479560:114:138
status: NEW
PMID: 24788897
[PubMed]
Durmaz A et al: "Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation."
No.
Sentence
Comment
72
In another study 2 affected females having CALD and AMN were shown to have heterozygous p. Ser358fsX42 and p. Gly510Ser mutations, respectively (Pereira Fdos et al. 2012).
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ABCD1 p.Gly510Ser 24788897:72:110
status: NEW