ABCD1 p.Arg236His
| ClinVar: |
c.707G>A
,
p.Arg236His
?
, Uncertain significance
|
| Predicted by SNAP2: | A: D (59%), C: D (75%), D: D (80%), E: D (59%), F: D (80%), G: D (66%), H: D (66%), I: D (63%), K: N (72%), L: D (66%), M: N (57%), N: D (59%), P: D (80%), Q: N (53%), S: N (53%), T: D (53%), V: D (59%), W: D (91%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: N, N: D, P: D, Q: N, S: N, T: D, V: D, W: D, Y: D, |
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[hide] Molecular characterization of 21 X-ALD Portuguese ... Mol Genet Metab. 2002 May;76(1):62-7. Guimaraes CP, Lemos M, Sa-Miranda C, Azevedo JE
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Mol Genet Metab. 2002 May;76(1):62-7., [PMID:12175782]
Abstract [show]
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. The gene associated with X-ALD, ABCD1, encodes a peroxisomal ATP-binding cassette half-transporter. In this study, we describe the molecular characterization of 21 affected Portuguese families. The complete coding region of the ABCD1 gene was amplified by reverse transcription polymerase chain reaction (RT-PCR) or genomic PCR. After conformation-sensitive gel electrophoresis analysis, fragments with a conformational heteroduplex pattern were sequenced. Using this strategy, we have identified 14 missense mutations, two nonsense mutations, two splicing site defects, and three small deletions, two of them resulting in frameshifts. Eight of the genetic alterations characterized in this study are novel. The levels of the ABCD1 transcript as well as the levels of ALDP in cultured skin fibroblasts of male probands were also determined in most cases. The levels of the ABCD1 transcript in one patient (corresponding to a nonsense mutation) were below the detection limit of Northern-blotting analysis. ALDP was found at normal levels in only three patients, absent in five (corresponding to a double missense, two nonsense, and two frameshift mutations), and decreased in all the others.
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No. Sentence Comment
107 R236H.
X
ABCD1 p.Arg236His 12175782:107:0
status: NEW109 After sequencing two missense mutations-R236H and G512S-were found.
X
ABCD1 p.Arg236His 12175782:109:40
status: NEW112 Thus, it cannot be ascertained at this moment whether the R236H alteration (a conservative amino acid substitution) is a disease-causing mutation per se.
X
ABCD1 p.Arg236His 12175782:112:58
status: NEW