Variant position: 560 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 FYIPQRPYMSVGSLRDQVIY PDSVEDMQRKGYSEQDLEAIL
Mouse FYIPQRPYMSVGSLRDQVIY PDSAEDMRRKGCSEQQLEAIL
Rat FYIPQRPYMSVGSLRDQVIY PDSAEDMRRKGCSEQQLEAIL
Zebrafish FYIPQRPYMSVGTLRDQVIY PHSVQEMQEKGITDRQLEEIL
Slime mold FFLPQQPYLIFGTLEEQILY PFS---KKQKRIPKSIMRELF
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
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
Braun A.; Ambach H.; Kammerer S.; Rolinski B.; Stoeckler S.; Rabl W.; Gaertner J.; Zierz S.; Roscher A.A.;
Am. J. Hum. Genet. 56:854-861(1995)
Cited for: VARIANTS ALD HIS-104; GLU-178; GLY-528 DEL AND LEU-560;
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;
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y.; Busin R.; Reeves C.; Bezman L.; Raymond G.; Toomer C.J.; Watkins P.A.; Snowden A.; Moser A.; Naidu S.; Bibat G.; Hewson S.; Tam K.; Clarke J.T.; Charnas L.; Stetten G.; Karczeski B.; Cutting G.; Steinberg S.;
Mol. Genet. Metab. 104:160-166(2011)
Cited for: VARIANTS ALD LEU-139 DEL; ARG-198; ARG-266; GLU-266; TRP-401; GLN-518; PHE-523; CYS-540; LEU-560; PRO-606; HIS-617; THR-626; PRO-632; ARG-633; LYS-640 AND ASP-677;
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.