ABCD1 p.Glu291Ala
| ClinVar: |
c.871G>A
,
p.Glu291Lys
D
, Pathogenic
|
| Predicted by SNAP2: | A: D (85%), C: D (91%), D: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (91%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[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]
Abstract [show]
Comments [show]
None has been submitted yet.
No. Sentence Comment
299 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.
X
ABCD1 p.Glu291Ala 9711597:299:227
status: NEW