ABCD3 p.Gly17Asp
| ClinVar: |
c.50G>A
,
p.Gly17Asp
?
, Uncertain significance
|
| Predicted by SNAP2: | A: D (66%), C: D (80%), D: D (91%), E: D (95%), F: D (85%), H: D (91%), I: D (85%), K: D (95%), L: D (80%), M: D (91%), N: D (85%), P: D (95%), Q: D (91%), R: D (95%), S: D (71%), T: D (71%), V: D (80%), W: D (95%), Y: D (85%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Peroxisomal ABC transporters. Methods Enzymol. 1998;292:753-76. Shani N, Valle D
Peroxisomal ABC transporters.
Methods Enzymol. 1998;292:753-76., [PMID:9711597]
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No. Sentence Comment
151 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.
X
ABCD3 p.Gly17Asp 9711597:151:125
status: NEW