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UniProtKB/Swiss-Prot P33897: Variant p.Cys88Trp

ATP-binding cassette sub-family D member 1
Gene: ABCD1
Variant information

Variant position:  88
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Tryptophan (W) at position 88 (C88W, p.Cys88Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In ALD.
Any additional useful information about the variant.



Sequence information

Variant position:  88
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  745
The length of the canonical sequence.

Location on the sequence:   NRVFLQRLLWLLRLLFPRVL  C RETGLLALHSAALVSRTFLS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         NRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLS

Mouse                         NRVFLQRLLALLRLLFPRVLCRETGLLALHSAALVSRTFLS

Rat                           NRVFLQRLLVLLRLLFPGVLCRETGLLALHSAALVSRTFLS

Zebrafish                     NREFFDRLIRLLKILFPRLFCKELGLLGFHSLALISRTFLS

Slime mold                    DWALFKRFINIIKILYAKPVIPLTLFLILFGNGF-AQTYVS

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 745 ATP-binding cassette sub-family D member 1
Region 67 – 186 Interaction with PEX19
Mutagenesis 68 – 68 N -> P. Does not affect PEX19 interaction.
Mutagenesis 69 – 69 R -> P. Does not affect PEX19 interaction.
Mutagenesis 70 – 70 V -> P. Does not affect PEX19 interaction.
Mutagenesis 71 – 71 F -> P. Does not affect PEX19 interaction.
Mutagenesis 72 – 72 L -> P. Does not affect PEX19 interaction.
Mutagenesis 73 – 73 Q -> P. Does not affect PEX19 interaction.
Mutagenesis 74 – 74 R -> P. Does not affect PEX19 interaction.
Mutagenesis 75 – 75 L -> P. Impairs PEX19 interaction.
Mutagenesis 76 – 76 L -> P. Impairs PEX19 interaction.
Mutagenesis 77 – 77 W -> P. Does not affect PEX19 interaction.
Mutagenesis 78 – 78 L -> P. Impairs PEX19 interaction.
Mutagenesis 79 – 79 L -> P. Impairs PEX19 interaction.
Mutagenesis 80 – 80 R -> P. Does not affect PEX19 interaction.
Mutagenesis 81 – 81 L -> P. Does not affect PEX19 interaction.
Mutagenesis 82 – 82 L -> P. Does not affect PEX19 interaction.
Mutagenesis 83 – 83 F -> P. Does not affect PEX19 interaction.


Literature citations

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
Montagna G.; Di Biase A.; Cappa M.; Melone M.A.B.; Piantadosi C.; Colabianchi D.; Patrono C.; Attori L.; Cannelli N.; Cotrufo R.; Salvati S.; Santorelli F.M.;
Hum. Mutat. 25:222-222(2005)
Cited for: VARIANTS ALD TRP-88; CYS-152; CYS-181; SER-343; PRO-503; ARG-514 AND HIS-554;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.