ABCD1 p.Leu391Pro
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PMID: 16996397
[PubMed]
Chiu HC et al: "Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
77
This transition mutation resulted in the conversion of a leucine at position 585 to a proline (L585P) of the adrenoleukodystrophy protein.
X
ABCD1 p.Leu391Pro 16996397:77:68
status: NEWX
ABCD1 p.Leu391Pro 16996397:77:106
status: NEW78 In the ALD-5 family, a missense mutation involving replacement of a leucine by a proline at position 391 (L391P) resulting from a nucleotide transition (1172 TϾC) in exon 3 of the ABCD1 gene was observed in the proband, the mother (Fig 2), and a sister (data not shown).
X
ABCD1 p.Leu391Pro 16996397:78:68
status: NEWX
ABCD1 p.Leu391Pro 16996397:78:106
status: NEW106 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene.
X
ABCD1 p.Leu391Pro 16996397:106:29
status: NEW104 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene.
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ABCD1 p.Leu391Pro 16996397:104:29
status: NEW
PMID: 9479034
[PubMed]
Coutelle O et al: "The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu."
No.
Sentence
Comment
137
Table 2 Amino acid comparison at sites of missense mutations in man, mouse, rat, chicken, Fugu, goldfish, zebrafish and Drosophila Human Mouse Rat Chicken Fugu Goldfish Zebrafish Drosophila Trp9Ser + Leu Leu Leu n.d. n.d. Leu Gly121Ser + + + + + + + Ile179Ser + + + + + + + Arg184Gln + + + + + + Asn Tyr194Cys + + + + + + Lys His194Cys Asn Asn + Asn Asn Asn Ser Pro240Leu + + + + + Ala His Cys264Tyr + + + + + + + Gly268Asp + + + + + + + Glu309Lys + + + + + + Thr Pro333Arg + + + + + + + Gly370Arg + + + + + + + Leu391Pro + + + + + + Ile Ala426Asp + + Leu Pro Pro + Pro Gly452Arg + + + + + + + Asp598Asn + + + + + + + Arg632Pro His His + Thr Thr Thr Glu Val768Phe + + + Thr Ala + Ile Pro941Leu + + Thr + + + + Tyr1070Cys + + Ser Ser Ser Ser Ser Ser1194Leu + + Gly + + + Asn Tyr1229His + + + Phe + + + Amino acids identical with the wild-type human gene are indicated by '+`, alterations in the aa are given as a three-letter aa-code.
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ABCD1 p.Leu391Pro 9479034:137:512
status: NEW142 Table 2 Amino acid comparison at sites of missense mutations in man, mouse, rat, chicken, Fugu, goldfish, zebrafish and Drosophila Human Mouse Rat Chicken Fugu Goldfish Zebrafish Drosophila Trp9Ser + Leu Leu Leu n.d. n.d. Leu Gly121Ser + + + + + + + Ile179Ser + + + + + + + Arg184Gln + + + + + + Asn Tyr194Cys + + + + + + Lys His194Cys Asn Asn + Asn Asn Asn Ser Pro240Leu + + + + + Ala His Cys264Tyr + + + + + + + Gly268Asp + + + + + + + Glu309Lys + + + + + + Thr Pro333Arg + + + + + + + Gly370Arg + + + + + + + Leu391Pro + + + + + + Ile Ala426Asp + + Leu Pro Pro + Pro Gly452Arg + + + + + + + Asp598Asn + + + + + + + Arg632Pro His His + Thr Thr Thr Glu Val768Phe + + + Thr Ala + Ile Pro941Leu + + Thr + + + + Tyr1070Cys + + Ser Ser Ser Ser Ser Ser1194Leu + + Gly + + + Asn Tyr1229His + + + Phe + + + Amino acids identical with the wild-type human gene are indicated by '+`, alterations in the aa are given as a three-letter aa-code.
X
ABCD1 p.Leu391Pro 9479034:142:512
status: NEW