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UniProtKB/Swiss-Prot P33897: Variant p.Arg554His

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

Variant position:  554
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 Arginine (R) to Histidine (H) at position 554 (R554H, p.Arg554His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. {ECO:0000269|PubMed:10369742, ECO:0000269|PubMed:10480364, ECO:0000269|PubMed:10551832, ECO:0000269|PubMed:10737980, ECO:0000269|PubMed:10980539, ECO:0000269|PubMed:11248239, ECO:0000269|PubMed:11438993, ECO:0000269|PubMed:11810273, ECO:0000269|PubMed:15643618, ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498, ECO:0000269|PubMed:23651979, ECO:0000269|PubMed:26686776, ECO:0000269|PubMed:7581394, ECO:0000269|PubMed:7717396, ECO:0000269|PubMed:7825602, ECO:0000269|PubMed:7849723, ECO:0000269|PubMed:7904210, ECO:0000269|PubMed:8040304, ECO:0000269|PubMed:8566952, ECO:0000269|PubMed:8651290, ECO:0000269|PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  554
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:   PPPQRMFYIPQRPYMSVGSL  R DQVIYPDSVEDMQRKGYSEQ
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                         PPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQ

Mouse                         PPPQRMFYIPQRPYMSVGSLRDQVIYPDSAEDMRRKGCSEQ

Rat                           PPPQRMFYIPQRPYMSVGSLRDQVIYPDSAEDMRRKGCSEQ

Zebrafish                     PSPDHMFYIPQRPYMSVGTLRDQVIYPHSVQEMQEKGITDR

Slime mold                    PENGDMFFLPQQPYLIFGTLEEQILYPFS---KKQKRIPKS

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
Domain 474 – 700 ABC transporter


Literature citations

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher M.B.; Seuanez H.N.; Moser A.B.; Moser H.W.; Smith K.D.;
Hum. Mutat. 15:348-353(2000)
Cited for: VARIANTS ALD ARG-103; ARG-116; SER-152; CYS-174; TRP-189; THR-218; PRO-229; ASP-298; GLN-401; TRP-401; TRP-418; LEU-543; HIS-554; VAL-616; ARG-633 AND PRO-646;

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.