Variant position: 608 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 ILQREGGW-------EAMCDWKDVLSG GEKQRIGMARMFYHRPKYALL
Mouse ILQREGGW-------EAVCDWKDVLSG GEKQRIGMARMFYH
Rat ILQREGGW-------EAVCDWKDVLSG GEKQRIGMARMFYH
Zebrafish ILEREGGW-------DAVSDWKDVLSG GEKQRMGMARMFYH
Slime mold LLDRERFIKKSAQVNDLTHNWLNQLSP GEQQLIAIIRLIYH
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
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.
Dvorakova L.; Storkanova G.; Unterrainer G.; Hujova J.; Kmoch S.; Zeman J.; Hrebicek M.; Berger J.;
Hum. Mutat. 18:52-60(2001)
Cited for: VARIANTS ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND PRO-660; VARIANT THR-13;
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.