ABCD1 p.Gly510Asp
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PMID: 16087056
[PubMed]
Pan H et al: "ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
62
The GϾA substitution at codon 510 (p.G510D), and the GϾT substitution at codon 343 (p.G343V), eliminated Bgl I and Ava I sites, respectively.
X
ABCD1 p.Gly510Asp 16087056:62:43
status: NEW63 However, the TϾA substitution at codon 605 (p. L605Q) generated a new BstX I restriction site.
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ABCD1 p.Gly510Asp 16087056:63:43
status: NEW130 (a) c.1028 GϾT (p.G343V); (b) c.1529 CϾT (p.G510D, antisense strand); (c) c.1814 TϾA (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA).
X
ABCD1 p.Gly510Asp 16087056:130:56
status: NEW131 (a) c.1028 Gb0e;T (p.G343V); (b) c.1529 Cb0e;T (p.G510D, antisense strand); (c) c.1814 Tb0e;A (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA).
X
ABCD1 p.Gly510Asp 16087056:131:56
status: NEW