ABCD1 p.Ser98Trp
| Predicted by SNAP2: | A: D (80%), C: D (71%), D: D (91%), E: D (95%), F: D (91%), G: D (75%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (85%), P: D (95%), Q: D (91%), R: D (95%), T: N (66%), V: D (91%), W: D (95%), Y: D (91%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D, |
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[hide] Two novel mutations in the adrenoleukodystrophy ge... J Neurol Sci. 2000 Aug 15;177(2):131-8. Ohi T, Takechi S, Itokazu N, Shiomi K, Sugimoto S, Antoku Y, Kato K, Sugimoto T, Nakayama T, Matsukura S
Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.
J Neurol Sci. 2000 Aug 15;177(2):131-8., [PMID:10980309]
Abstract [show]
We identified two novel missense mutations in exon 1 of adrenoleukodystrophy (ALD) gene in two unrelated Japanese families. The first, G(874)C transition results in Arg(163)Pro substitution in the cytoplasmic domain of the ALD protein in adrenomyeloneuropathy family. The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family. Both mutations cause the substitution of polar amino acid (arginine and serine) with non-polar amino acid (proline and tryptophan). Bone marrow transplantation (BMT) from his non-affected his younger sister was performed on a boy with childhood onset cerebral ALD who showed neurological deficit and brain MRI abnormalities. We evaluated the effect of BMT over a 6-year period in terms of neurological deficit, the level of very-long-chain fatty acids (VLCFA) in plasma and fibroblasts, and brain MRI. After BMT, patient's peripheral white blood cells were replaced by donor's XX ones carrying a normal ALD gene confirmed by in situ hybridization using satellite DNA of the centromere of X and Y chromosomes as probes and the level of VLCFA in lymphocytes was within normal limit. However, his neurological state progressively deteriorated. BMT was not beneficial to him.
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No. Sentence Comment
2 The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family.
X
ABCD1 p.Ser98Trp 10980309:2:31
status: NEW114 Currently he ALD gene in this boy revealed a single nucleotide substitu- remains in chronic vegetative state and is being adminis- tion at position 679, replacing C with G and changing tered anticonvulsant medication through a gastric feeding serine to tryptophan at amino acid position 98 of the tube.
X
ABCD1 p.Ser98Trp 10980309:114:243
status: NEW116 This mutation Ser(98)Trp was also present in his mother and younger brother.
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ABCD1 p.Ser98Trp 10980309:116:14
status: NEW168 The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop.
X
ABCD1 p.Ser98Trp 10980309:168:93
status: NEW167 The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop.
X
ABCD1 p.Ser98Trp 10980309:167:93
status: NEW