Variant position: 143 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 VRKDPRAFGWQLLQWLLIAL PATFVNSAIRYLEGQLALSFR
Mouse VRKDPRAFSWQLLQWLLIAL PATFINSAIRYLEGQLALSFR
Rat VRKDPRAFSWQLLQWLLIAL PATFINSAIRYLEGQLALSFR
Zebrafish VKKDPRAFVVELTKWLLIAI PATFVNSAIRYLEGQLTLAFR
Slime mold TSGDKVFFLSSVLKAGFAIG GSALLAAIINFIVSIMAWNWR
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
131 – 151 Helical
94 – 386 ABC transmembrane type-1
67 – 186 Interaction with PEX19
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M.; Kohler W.; Brennemann W.; Boese V.; Sokolowski P.; Bidlingmaier F.; Ludwig M.;
Hum. Genet. 105:116-119(1999)
Cited for: VARIANTS ALD PRO-105; SER-143; SER-148; PRO-190; ASP-298; SER-529 AND TYR-638;
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
Perusi C.; Gomez-Lira M.; Mottes M.; Pignatti P.F.; Bertini E.; Cappa M.; Vigliani M.C.; Schiffer D.; Rizzuto N.; Salviati A.;
Mol. Cell. Probes 13:179-182(1999)
Cited for: VARIANTS ALD LEU-108 AND SER-143;
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