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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P33897: Variant p.Ala99Asp

ATP-binding cassette sub-family D member 1
Gene: ABCD1
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Variant information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Alanine (A) to Aspartate (D) at position 99 (A99D, p.Ala99Asp). 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: help Change from small size and hydrophobic (A) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ALD; AMN-type. Any additional useful information about the variant.


Sequence information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 745 The length of the canonical sequence.
Location on the sequence: help LRLLFPRVLCRETGLLALHS A ALVSRTFLSVYVARLDGRLA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLA

Mouse                         LRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLA

Rat                           LRLLFPGVLCRETGLLALHSAALVSRTFLSVYVARLDGRLA

Zebrafish                     LKILFPRLFCKELGLLGFHSLALISRTFLSIYVANLDGQIV

Drosophila                    AKIMIPQAFCYETGLLSVHTFCLISRTFLSIYVAALEGALV

Slime mold                    IKILYAKPVIPLTLFLILFGNGF-AQTYVSKFTGILLADIY
Sequence annotation in neighborhood: help 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
Transmembrane 92 – 112 Helical
Domain 94 – 386 ABC transmembrane type-1
Region 67 – 186 Interaction with PEX19
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.
Helix 89 – 111



Literature citations
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.
Dvorakova L.; Storkanova G.; Unterrainer G.; Hujova J.; Kmoch S.; Zeman J.; Hrebicek M.; Berger J.;
Hum. Mutat. 18:52-60(2001)
Cited for: VARIANTS ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND PRO-660; VARIANT THR-13; CHARACTERIZATION OF VARIANT ALD GLU-217; CHARACTERIZATION OF VARIANT THR-13;
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.