ABCD1 p.Leu605Gln
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PMID: 16087056
[PubMed]
Pan H et al: "ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
63
However, the TϾA substitution at codon 605 (p. L605Q) generated a new BstX I restriction site.
X
ABCD1 p.Leu605Gln 16087056:63:53
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.Leu605Gln 16087056:130:106
status: NEW64 However, the Tb0e;A substitution at codon 605 (p. L605Q) generated a new BstX I restriction site.
X
ABCD1 p.Leu605Gln 16087056:64:53
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.Leu605Gln 16087056:131:106
status: NEW