Variant position: 174 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 LEGQLALSFRSRLVAHAYRL YFSQQTYYRVSNMDGRLRNPD
Mouse LEGQLALSFRSRLVAHAYGL YFSQQTYYRVSNMDGRLRNPD
Rat LEGQLALSFRSRLVAHAYGL YFSQQTYYRVSNMDGRLRNPD
Zebrafish LEGQLTLAFRTRLVTHAYML YFSDQTYYRVSNMDGRLANPD
Slime mold IVSIMAWNWRKTLCLYIQNV YFKKSLFYKILAFDDRIDNPD
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
94 – 386 ABC transmembrane type-1
67 – 186 Interaction with PEX19
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S.; Sarde C.-O.; Wedemann H.; Schwinger E.; Mandel J.-L.; Gal A.;
Hum. Mol. Genet. 3:1903-1905(1994)
Cited for: VARIANTS ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND PHE-515;
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;
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.