ABCD1 p.Pro143Leu
| Predicted by SNAP2: | A: D (85%), C: D (85%), D: D (91%), E: D (95%), F: D (91%), G: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (85%), N: D (91%), Q: D (95%), R: D (95%), S: D (91%), T: D (85%), V: D (91%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Two novel missense mutations causing adrenoleukody... Mol Cell Probes. 1999 Jun;13(3):179-82. Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Bertini E, Cappa M, Vigliani MC, Schiffer D, Rizzuto N, Salviati A
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
Mol Cell Probes. 1999 Jun;13(3):179-82., [PMID:10369742]
Abstract [show]
The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.
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No. Sentence Comment
40 Since mutations C813T and C709T do not alter normally occurring restriction sites, we designed (Pro143Leu) (Fig. 1a).
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ABCD1 p.Pro143Leu 10369742:40:96
status: NEW41 The mutation was confirmed Missense mutations in the ALD gene gene have been suggested to be around 8% or more.12,13 The mutation C813T results in a Pro 143 Ser substitution in the third putative transmembrane domain.
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ABCD1 p.Pro143Leu 10369742:41:96
status: NEW