ABCD1 p.Gly248Arg
| Predicted by SNAP2: | A: N (66%), C: N (72%), D: D (71%), E: D (75%), F: N (57%), H: D (66%), I: N (61%), K: D (80%), L: N (61%), M: N (53%), N: N (57%), P: D (63%), Q: D (71%), R: D (75%), S: N (66%), T: N (66%), V: N (57%), W: D (63%), Y: N (72%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: D, |
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[hide] An under-recognised cause of spastic paraparesis i... Pract Neurol. 2014 Jun;14(3):182-4. doi: 10.1136/practneurol-2013-000662. Epub 2013 Oct 23. Bargiela D, Eglon G, Horvath R, Chinnery PF
An under-recognised cause of spastic paraparesis in middle-aged women.
Pract Neurol. 2014 Jun;14(3):182-4. doi: 10.1136/practneurol-2013-000662. Epub 2013 Oct 23., [PMID:24154795]
Abstract [show]
Having excluded common structural, inflammatory and vascular causes of a spastic paraparesis, the diagnostic yield of further clinical investigations is low. Here, we show that testing for rare metabolic and genetic causes can have important implications for both the patient and their family.
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No. Sentence Comment
45 Genetic testing identified a heterozygous c.742G>C (p. Gly248Arg) mutation in exon 1 of the ABCD1 gene.
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ABCD1 p.Gly248Arg 24154795:45:55
status: NEW