Sequence information
Variant position: 105 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:
RVLCRETGLLALHSAALVSR
T FLSVYVARLDGRLARCIVRK
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 RVLCRETGLLALHSAALVSRT FLSVYVARLDGRLARCIVRK
Mouse RVLCRETGLLALHSAALVSRT FLSVYVARLDGRLARCIVRK
Rat GVLCRETGLLALHSAALVSRT FLSVYVARLDGRLARCIVRK
Zebrafish RLFCKELGLLGFHSLALISRT FLSIYVANLDGQIVKTIVKK
Slime mold KPVIPLTLFLILFGNGF-AQT YVSKFTGILLADIYASFTSG
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
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M.; Kohler W.; Brennemann W.; Boese V.; Sokolowski P.; Bidlingmaier F.; Ludwig M.;
Hum. Genet. 105:116-119(1999)
Cited for: VARIANTS ALD PRO-105; SER-143; SER-148; PRO-190; ASP-298; SER-529 AND TYR-638;
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.