Sequence information
Variant position: 104 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:
PRVLCRETGLLALHSAALVS
R TFLSVYVARLDGRLARCIVR
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 PRVLCRETGLLALHSAALVSR TFLSVYVARLDGRLARCIVR
Mouse PRVLCRETGLLALHSAALVSR TFLSVYVARLDGRLARCIVR
Rat PGVLCRETGLLALHSAALVSR TFLSVYVARLDGRLARCIVR
Zebrafish PRLFCKELGLLGFHSLALISR TFLSIYVANLDGQIVKTIVK
Slime mold AKPVIPLTLFLILFGNGF-AQ TYVSKFTGILLADIYASFTS
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
Transmembrane
92 – 112
Helical
Domain
94 – 386
ABC transmembrane type-1
Region
67 – 186
Interaction with PEX19
Literature citations
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;
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.