ABCD1 p.Arg617Ser
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PMID: 21273699
[PubMed]
Kumar N et al: "Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy."
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5
The molecular analysis by direct sequencing of the ABCD1 gene showed the presence of a novel missense mutation at c.1849C>A / Arg617Ser in the ATP binding domain in the proband and his mother, further establishing the diagnosis of the disease.
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ABCD1 p.Arg617Ser 21273699:5:126
status: NEW24 In this study, we observed a novel point mutation (Arg617Ser) in exon 8 of the ABCD1 gene both in the proband and his mother.
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ABCD1 p.Arg617Ser 21273699:24:51
status: NEW40 To explore the role of arginine-617 of ALDP, an Arg617Ser substitution was carried out for the model on a graphics workstation and subjected to the same rounds of minimization.
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ABCD1 p.Arg617Ser 21273699:40:48
status: NEW64 The SIFT score of Arg617Ser is 0.00 sorting intolerant from tolerant (SIFT) score 0.05 is predicted to be deleterious).
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ABCD1 p.Arg617Ser 21273699:64:18
status: NEW66 These scores suggest that Arg617Ser substitution may affect protein structure which may adversely affect its function.
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ABCD1 p.Arg617Ser 21273699:66:26
status: NEW73 In silico analysis was carried out to explore the role of Arg617Ser mutation on binding of ATP.
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ABCD1 p.Arg617Ser 21273699:73:58
status: NEW81 Substitution of arginine-617 to serine has an effect on the loop immediately following it includes residues of the Walker B motif and involves in ATP binding (aspartate-629) (figure 2c).
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ABCD1 p.Arg617Ser 21273699:81:16
status: NEW86 The proband possessed a novel missense mutation (c.1849C>A/Arg617Ser) in exon 8 of NBD, which is functionally important domain for binding ATP.
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ABCD1 p.Arg617Ser 21273699:86:59
status: NEW93 Superposition of native (black) and Arg617Ser substituted model (gray) of ALDP showed an overall rmsd (root mean square deviation) of 1.4 Å for 100 atoms (residues 605-704).
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ABCD1 p.Arg617Ser 21273699:93:36
status: NEW99 This mutation c.1849C>A in exon 8 of ABCD1 gene leads to exchange of amino acid arginine to serine at position 617 in the ALDP (Arg617Ser).
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ABCD1 p.Arg617Ser 21273699:99:80
status: NEWX
ABCD1 p.Arg617Ser 21273699:99:128
status: NEW106 However, in silico analysis suggests that Arg617Ser mutation located in the Walker B region in the ATP binding domain of ALDP may change pocket size of NBD which may affect ATP binding.
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ABCD1 p.Arg617Ser 21273699:106:42
status: NEW