Sequence information
Variant position: 189 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:
HAYRLYFSQQTYYRVSNMDG
R LRNPDQSLTEDVVAFAASVA
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 HAYRLYFSQQTYYRVSNMDGR LRNPDQSLTEDVVAFAASVA
Mouse HAYGLYFSQQTYYRVSNMDGR LRNPDQSLTEDVVAFAASVA
Rat HAYGLYFSQQTYYRVSNMDGR LRNPDQSLTEDMVAFAASVA
Zebrafish HAYMLYFSDQTYYRVSNMDGR LANPDQSLTEDVVMFAASVA
Slime mold YIQNVYFKKSLFYKILAFDDR IDNPDQRITSDIDNFTTLLA
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
Chain
1 – 745
ATP-binding cassette sub-family D member 1
Domain
94 – 386
ABC transmembrane type-1
Literature citations
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;
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.