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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P33897: Variant p.Arg401Gln

ATP-binding cassette sub-family D member 1
Gene: ABCD1
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Variant information Variant position: help 401 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 Arginine (R) to Glutamine (Q) at position 401 (R401Q, p.Arg401Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ABCD2 and ABCD3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 401 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 RTEAFTIARNLLTAAADAIE R IMSSYKEVTELAGYTARVHE 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                         RTE-------------------------------AFTIARNLLTAA------------ADAIERIMSSYKEVTELAGYTARVHE

Mouse                         RTE-------------------------------AFTIARN

Rat                           RTE-------------------------------AFTIARN

Zebrafish                     RTQ-------------------------------AFTTARS

Drosophila                    RTQ-------------------------------YLTTARN

Slime mold                    KKRVIFWQLGLNTTSDLFTYLSPIANYFIIAIPVFFLNNKS
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
Helix 392 – 403



Literature citations
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
Liu L.X.; Janvier K.; Berteaux-Lecellier V.; Cartier N.; Benarous R.; Aubourg P.;
J. Biol. Chem. 274:32738-32743(1999)
Cited for: SUBUNIT; CHARACTERIZATION OF VARIANTS ALD HIS-389; GLN-401; ARG-484 AND GLN-591; Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S.; Sarde C.-O.; Wedemann H.; Schwinger E.; Mandel J.-L.; Gal A.;
Hum. Mol. Genet. 3:1903-1905(1994)
Cited for: VARIANTS ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND PHE-515; Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins P.A.; Gould S.J.; Smith M.A.; Braiterman L.T.; Wei H.M.; Kok F.; Moser A.B.; Moser H.W.; Smith K.D.;
Am. J. Hum. Genet. 57:292-301(1995)
Cited for: VARIANTS ALD GLU-276; ASP-291; GLU-291 DEL; PRO-342; HIS-389; GLN-401; GLN-591; LEU-606; HIS-617; THR-626; HIS-629 AND TRP-660; Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann E.W.; Meier V.; Korenke G.C.; Hunneman D.H.; Hanefeld F.;
Hum. Genet. 97:194-197(1996)
Cited for: VARIANTS ALD PRO-107; ASP-174; PRO-211; MET-254; ARG-277; GLY-389; GLN-401; TRP-418; LYS-609; CYS-617 AND GLY-617; 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; Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira M.G.; Mottes M.; Pignatti P.F.; Medica I.; Uziel G.; Cappa M.; Bertini E.; Rizzuto N.; Salviati A.;
Hum. Mutat. 16:271-271(2000)
Cited for: VARIANTS ALD GLN-401; TRP-418; LEU-543 AND ARG-556; Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
Shukla P.; Gupta N.; Gulati S.; Ghosh M.; Vasisht S.; Sharma R.; Gupta A.K.; Kalra V.; Kabra M.;
Clin. Chim. Acta 412:2289-2295(2011)
Cited for: VARIANTS ALD GLN-401; PRO-516; LEU-560; PRO-606 AND GLN-660; Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
Kumar N.; Taneja K.K.; Kalra V.; Behari M.; Aneja S.; Bansal S.K.;
PLoS ONE 6:e25094-e25094(2011)
Cited for: VARIANTS ALD ARG-266; LYS-302; GLN-401; TRP-591; PRO-606; LYS-609 AND GLN-660;
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.