PMID: 9711597

Shani N, Valle D
Peroxisomal ABC transporters.
Methods Enzymol. 1998;292:753-76., [PubMed]
Sentences
No. Mutations Sentence Comment
151 ABCD3 p.Gly17Asp
X
ABCD3 p.Gly17Asp 9711597:151:125
status: NEW
view ABCD3 p.Gly17Asp details
 49,57'58,5saTwo complementation group 1 PBD patients were shown to be heterozygous for PMP70 mutations: a missense mutation (G17D); and a donor splice site change in the last intron, which results in replacement of the C-terminal 25 amino acids by a new sequence of 23 residues. Login to comment 299 ABCD1 p.Glu291Leu
X
ABCD1 p.Glu291Leu 9711597:299:221
status: NEW
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ABCD1 p.Glu291Ala
X
ABCD1 p.Glu291Ala 9711597:299:227
status: NEW
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 PEROX~SOMALABC TRANSPORTERS ScPxal p ScPxa2p HsPMP70 HsALDP MmALDR CeC44B7.8 HsTAP1 HsMDR1 MmMDR2 HsMDR3 DmMDR4 D L PA 292-306 320-334 275-289 289-303 252-566 283-397 376-390 280-294 279-293 282-296 284-298 f E291DX-ALD E291L E291A FIG.3. Login to comment 308 ABCD1 p.Glu291Asp
X
ABCD1 p.Glu291Asp 9711597:308:151
status: NEW
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ABCD1 p.Glu291Leu
X
ABCD1 p.Glu291Leu 9711597:308:158
status: NEW
view ABCD1 p.Glu291Leu details
 Missense mutations altering the corresponding glutamic acid residue of ALDP (E291) have been described in two unrelated adrenoleukodystrophy patients (E291D, E291L). Login to comment