Sequence information
Variant position: 617 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:
AMCDWKDVLSGGEKQRIGMA
R MFYHRPKYALLDECTSAVSI
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 AMCDWKDVLSGGEKQRIGMAR MFYHRPKYALLDECTSAVSI
Mouse AVCDWKDVLSGGEKQRIGMAR MFYHRPKYALLDECTSAVSI
Rat AVCDWKDVLSGGEKQRIGMAR MFYHRPKYALLDECTSAVSI
Zebrafish AVSDWKDVLSGGEKQRMGMAR MFYHKPQYALLDECTSAVSI
Slime mold LTHNWLNQLSPGEQQLIAIIR LIYHKPKFALMDESTSSIPQ
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
474 – 700
ABC transporter
Literature citations
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;
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; MET-254; GLY-389; GLN-401; TRP-418; LYS-609; CYS-617 AND GLY-617;
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.