ABCD1 p.Arg617Ser
| ClinVar: |
c.1849C>T
,
p.Arg617Cys
D
, Pathogenic
c.1850G>A , p.Arg617His D , Pathogenic |
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Novel mutation in ATP-binding domain of ABCD1 gene... J Genet. 2010 Dec;89(4):473-7. Kumar N, Taneja KK, Kumar A, Nayar D, Taneja B, Aneja S, Behari M, Kalra V, Bansal SK
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
J Genet. 2010 Dec;89(4):473-7., [PMID:21273699]
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No. Sentence Comment
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.
X
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.
X
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.
X
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).
X
ABCD1 p.Arg617Ser 21273699:64:18
status: NEW66 These scores suggest that Arg617Ser substitution may affect protein structure which may adversely affect its function.
X
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.
X
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).
X
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.
X
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).
X
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).
X
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.
X
ABCD1 p.Arg617Ser 21273699:106:42
status: NEW