ABCMdb

ABCD1 p.Ile481Phe

None has been submitted yet.

Publications

PMID: 22479560 [PubMed] Pereira Fdos S et al: "Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

26 NBF Inherited Northern Brazil 31/Male CALD p.Arg518Gln (Imamura A et al., 1997) E6 Missense c.1553G.A CGG.CAG NBF de novo Southern Brazil 32/Male CALD p.Arg401Trp (Takano H et al., 1999) E3 Missense c.1201C.T CGG.UGG - ND Southern Brazil 33/Male CALD p.Thr632Pro (http://www.x-ald.nl) E9 Missense c.1894A.C ACC.CCC NBF de novo Southern Brazil 36/Male CALD p.Arg518Gln (Imamura A et al., 1997) E6 Missense c.1553G.A CGG.CAG NBF Inherited Northern Brazil 37/Male CALD p.Ser358X (Coll MJ et al., 2005) E2 Stop codon c.1073C.G UCA.UGA TMD Inherited Southern Brazil 38/Male CALD p.Ile481Phe # E5 Missense c.1441A.T AUC.UUC NBF Inherited Northern Brazil 39/Male AMN p.Arg389Gly (Krasemann EW et al., 1996) E3 Missense c.1165C.G CGC.GGC - ND Argentina 40/Male AMN p.Gln472fsX83 (Barcelo &#b4; A et al., 1994) E5 Frameshift+stop codon c.1415_1416delAG Truncated - Inherited Uruguay 41/Male CALD p.Ala95fsX11 # E1B Frameshift+stop codon c.283_284ins9 Elonged TMD Inherited Southern Brazil 44/Male CALD p.Ser606Pro (Feigenbaum V et al. 1996) E8 Missense c.1816T.C UCG.CCG NBF Inherited Northern Brazil 45/Male CALD p.Gln55X # E1A Stop codon c.163C.T Truncated - Inherited Northern Brazil 46/Male CALD p.Glu199Lys (http://www.x-ald.nl) E1C Missense c.595G.A GAG.AAG TMD ND Northern Brazil common central demyelinative disease. Login to comment
90 The remaining four novel sequence variations (p.Pro623Leu, p.Leu628Glu, p.Ile481Phe and p.Arg401Gly), if not causative of the disease, were linked to X-ALD genotype by DNA study of hemizygous affected males. Login to comment
91 PolyPhen analysis of the four novel missense mutations considered three of them to be ''probably damaging`` p.Arg401Gly (PSIC score 3.071), p.Pro623Leu (PSIC score 3.379), and p.Leu628Glu (PSIC score 2.417), whereas p.Ile481Phe was considered ''benign`` Figure 1. Login to comment