ABCMdb

ABCD1 p.Leu391Pro

Predicted by SNAP2:	A: D (63%), C: D (59%), D: D (91%), E: D (85%), F: D (71%), G: D (85%), H: D (85%), I: D (59%), K: D (85%), M: N (53%), N: D (85%), P: D (91%), Q: D (75%), R: D (85%), S: D (80%), T: D (75%), V: D (59%), W: D (85%), Y: D (71%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Mutational analyses of Taiwanese kindred with X-li... Pediatr Neurol. 2006 Oct;35(4):250-6. Chiu HC, Liang JS, Wang JS, Lu JF
Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Pediatr Neurol. 2006 Oct;35(4):250-6., [PMID:16996397]

Abstract [show]
X-linked adrenoleukodystrophy is a neurodegenerative disorder with highly variable clinical presentation, including the childhood cerebral form, adult form adrenomyeloneuropathy, and Addison disease. The biochemical hallmark of the disorder is the accumulation of saturated very long chain fatty acids in all tissues and body fluids. This accumulation results from mutations in the ABCD1 gene localized to Xq28. Using polymerase chain reaction and direct sequencing of deoxyribonucleic acid, we identified five novel mutations, including a microdeletion (1624 del ATC), a splicing site mutation (intervening sequence 1 [IVS1] -2a>c), and three missense mutations (1172 T>C, 1520 G>A, and 1754 T>C), from Taiwanese kindred with X-linked adrenoleukodystrophy. A polymorphism involving a single nucleotide deletion in the intervening sequence 5 (IVS5 -6 del c) of the ABCD1 gene, previously misattributed as a mutation in the Chinese population, was also identified. The dinucleotide deletion (1415 del AG) mutation common in Japan and Western countries was not found as frequently in the Chinese and Taiwanese populations. Instead, a higher mutation frequency was observed in exon 6 of the ABCD1 gene among Japanese, Chinese, and Taiwanese kindred with X-linked adrenoleukodystrophy, representing a potential mutational hotspot for future mutational screening among these Asian populations.

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Sentences [show]
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. Login to comment
78 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). Login to comment
106 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene. Login to comment
104 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene. Login to comment

[hide] The neural cell adhesion molecule L1: genomic orga... Gene. 1998 Feb 16;208(1):7-15. Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.
Gene. 1998 Feb 16;208(1):7-15., [PMID:9479034]

Abstract [show]
The human gene for the neural cell adhesion molecule L1 is located on Xq28 between the ALD and MeCP2 loci. Mutations in the L1 gene are associated with four related neurological disorders, X-linked hydrocephalus, spastic paraplegia (SPG1), MASA syndrome, and X-linked corpus callosum agenesis. The clinical relevance of L1 has led us to sequence the L1 gene in human and to investigate its conservation in the vertebrate model genome of the pufferfish, Fugu rubripes (Fugu), a species with a compact genome of around 40Mb. For this purpose we have sequenced a human and a Fugu cosmid clone containing the corresponding L1 genes. For comparison, we have also amplified and sequenced the complete Fugu L1 cDNA. We find that the genomic structure of L1 is conserved. The human and Fugu L1 gene both have 28 exons of nearly identical size. Differential splicing of exons 2 and 27 is conserved over 430 million years, the evolutionary time span between the teleost Fugu and the human L1 gene. In contrast to previously published Fugu genes, many introns are larger in the Fugu L1 gene, making it slightly larger in size despite the compact nature of the Fugu genome. Homology at the amino acid and the nucleotide level with 40% and 51%, respectively, is lower than that of any previously reported Fugu gene. At the level of protein structure, both human and Fugu L1 molecules are composed of six immunoglobulin (Ig)-like domains and five fibronectin (Fn) type III domains, followed by a transmembrane domain and a short cytoplasmic domain. Only the transmembrane and the cytoplasmic domains are significantly conserved in Fugu, supporting their proposed function in intracellular signalling and interaction with cytoskeletal elements in the process of neurite outgrowth and fascicle formation. Our results show that the cytoplasmic domain can be further subdivided into a conserved and a variable region, which may correspond to different functions. Most pathological missense mutations in human L1 affect conserved residues. Fifteen out of 22 reported missense mutations alter amino acids that are identical in both species.

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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. Login to comment
142 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. Login to comment