Variant position: 606 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:
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 HHILQREGGW-------EAMCDWKDVL SGGEKQRIGMARMFYHRPKYA
Mouse RHILQREGGW-------EAVCDWKDVL SGGEKQRIGMARMF
Rat RHILQREGGW-------EAVCDWKDVL SGGEKQRIGMARMF
Zebrafish RYILEREGGW-------DAVSDWKDVL SGGEKQRMGMARMF
Slime mold DYLLDRERFIKKSAQVNDLTHNWLNQL SPGEQQLIAIIRLI
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.
Type Positions Description
1 – 745 ATP-binding cassette sub-family D member 1
474 – 700 ABC transporter
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
Roerig P.; Mayerhofer P.; Holzinger A.; Gaertner J.;
FEBS Lett. 492:66-72(2001)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS ALD SER-512 AND LEU-606;
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P.; Guidoux S.; Sarde C.-O.; Mandel J.-L.; Goossens M.; Aubourg P.;
J. Clin. Invest. 94:516-520(1994)
Cited for: VARIANTS ALD TRP-518; LEU-606; CYS-617 AND HIS-617;
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