Sequence information
Variant position: 660 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:
EGKIFQAAKDAGIALLSITH
R PSLWKYHTHLLQFDGEGGWK
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 EGKIFQAAKDAGIALLSITHR PSLWKYHTHLLQFDGEGGWK
Mouse EGKIFQAAKDAGIALLSITHR PSLWKYHTHLLQFDGEGGWK
Rat EGKIFQAAKDAGISLLSITHR PSLWKYHTHLLQFDGEGGWK
Zebrafish EGKIFEAAKDAGISLLSITHR PSLWKYHSHLLQFDGEGGWR
Slime mold EERVYYVAKELGITIISVGHR ISLLKYHSTLLRFDKDKNWY
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
Region
658 – 745
Required for homodimerization
Literature citations
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
Shukla P.; Gupta N.; Gulati S.; Ghosh M.; Vasisht S.; Sharma R.; Gupta A.K.; Kalra V.; Kabra M.;
Clin. Chim. Acta 412:2289-2295(2011)
Cited for: VARIANTS ALD GLN-401; PRO-516; LEU-560; PRO-606 AND GLN-660;
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.