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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NP58: Variant p.Gly579Glu

ATP-binding cassette sub-family B member 6
Gene: ABCB6
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Variant information Variant position: help 579 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 Glycine (G) to Glutamate (E) at position 579 (G579E, p.Gly579Glu). 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 glycine (G) to medium size and acidic (E) 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 DUH3; the protein is retained in the Golgi apparatus. Does not affect subcellular location in early melanosome and lysosome. Does not rescue the normal amyloid fibril formation and normal maturation of pigmented melanosomes. Does not influence trafficking of melanosomal proteins.. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 579 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 842 The length of the canonical sequence.
Location on the sequence: help IDMENMFDLLKEETEVKDLP G AGPLRFQKGRIEFENVHFSY 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                         IDMENMFDLLKEETEVKDLPGAGPLRFQKGR---------IEFENVHFSY

Mouse                         IDMENMFDLLKEETEVKDVPGAGPLRFHKGR---------I

Rat                           IDMENMFDLLKEETEVKDVPGAGPLRFHKGR---------V

Xenopus tropicalis            IDMENMFELFNEDQEVKDAVNAPALMFRSGK---------I

Slime mold                    TDMENLFELLDTQPEVSDSPNAKELNFNDTNNPSKTILPSI
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 – 842 ATP-binding cassette sub-family B member 6
Topological domain 551 – 842 Cytoplasmic
Binding site 599 – 599



Literature citations
ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation.
Bergam P.; Reisecker J.M.; Rakvacs Z.; Kucsma N.; Raposo G.; Szakacs G.; van Niel G.;
J. Mol. Biol. 430:3802-3818(2018)
Cited for: SUBCELLULAR LOCATION; FUNCTION; MUTAGENESIS OF LYS-629; CHARACTERIZATION OF VARIANT DUH3 GLU-579; Mutations in ABCB6 cause dyschromatosis universalis hereditaria.
Zhang C.; Li D.; Zhang J.; Chen X.; Huang M.; Archacki S.; Tian Y.; Ren W.; Mei A.; Zhang Q.; Fang M.; Su Z.; Yin Y.; Liu D.; Chen Y.; Cui X.; Li C.; Yang H.; Wang Q.; Wang J.; Liu M.; Deng Y.;
J. Invest. Dermatol. 133:2221-2228(2013)
Cited for: VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579; CHARACTERIZATION OF VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579;
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.