ABCMdb

ABCD1 p.Phe540Cys

None has been submitted yet.

Publications

PMID: 21700483 [PubMed] Wang Y et al: "X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism."

No. Sentence Comment

90 Previously reported (Yes/No) Number of pedigrees reporteda CpG (Yes/No) 25 c.124delC ND No 1 N/A 5 c.279_280ins12bp (p.Leu93_Leu94insGluThrGlyLeu) ND No 1 No 6 c.410G>A (p.Trp137X) ND No 1 No 7 c.412_414delCTC (p.Leu139del) ND Yes 2 No 26 c.476del24 ND No 1 N/A 4 c.593C>G (p.Thr198Met) N/A No 1 Yes 8 c.695_696insG (p.Ala233fsX67) ND No 1 Yes 2 c.725G>A (p.Trp242X) Gonosomal No 1 No c.796G>A (p.Gly266Arg) ND Yes 23 Yes 27 c.797G>A (p.Gly266Gln) ND No 1 No 12 c.944C>A (p.Ser315X) ND No 1 Yes 13 c.1201C>T (p.Arg401Trp) ND Yes 12 Yes 14 c.1225-2A>G (splice defect) ND No 1 No 15 c.1390C>T (p.Arg464X) ND Yes 11 Yes 16 c.1553G>A (p.Arg518 Gln) ND Yes 20 Yes 17 c.1567C>T (p.Leu523Phe) ND No 1 No 18 c.1609C>T (p.Gln537X) ND No 1 No 28 c.1619T>G (p.Phe540Cys) ND No 1 No 19 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 29 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 20 exon3 to exon10 deletion ND Yesb 9 N/A 30 c.1781-1G>A ND No 1 No 21 c.1816T>C (p.Ser606Pro) ND Yes 3 No 31 c.1850G>A (p.Arg617His) ND Yes 20 Yes 22 c.1876G>A (p.Ala626Thr) ND Yes 10 Yes 23 c.1894A>C (p.Thr632Pro) ND No 2 No 1 c.1899C>A (p.Ser633Arg) Gonosomal Yes 2 Yes 24 c.1918 G>A (p.Glu640Lys) ND No 2 No 3 c.2030G>A (p.Gly677Asp) Gonadal No 1 Yes de novo mutation in male index case with childhood cerebral X-ALD;somatic and/or gonadal mosaicisim; de novo mutationND = none detected; N/A = not applicable; Color codes: in female carrier. Login to comment