Variant position: 95 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 LLWLLRLLFPRVLCRETGLL ALHSAALVSRTFLSVYVARLD
Mouse LLALLRLLFPRVLCRETGLL ALHSAALVSRTFLSVYVARLD
Rat LLVLLRLLFPGVLCRETGLL ALHSAALVSRTFLSVYVARLD
Zebrafish LIRLLKILFPRLFCKELGLL GFHSLALISRTFLSIYVANLD
Slime mold FINIIKILYAKPVIPLTLFL ILFGNGF-AQTYVSKFTGILL
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
92 – 112 Helical
94 – 386 ABC transmembrane type-1
67 – 186 Interaction with PEX19
75 – 75 L -> P. Impairs PEX19 interaction.
76 – 76 L -> P. Impairs PEX19 interaction.
77 – 77 W -> P. Does not affect PEX19 interaction.
78 – 78 L -> P. Impairs PEX19 interaction.
79 – 79 L -> P. Impairs PEX19 interaction.
80 – 80 R -> P. Does not affect PEX19 interaction.
81 – 81 L -> P. Does not affect PEX19 interaction.
82 – 82 L -> P. Does not affect PEX19 interaction.
83 – 83 F -> P. Does not affect PEX19 interaction.
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
Kallabi F.; Hadj Salem I.; Ben Salah G.; Ben Turkia H.; Ben Chehida A.; Tebib N.; Fakhfakh F.; Kamoun H.;
Neurodegener. Dis. 12:207-211(2013)
Cited for: VARIANT ALD ASP-95;
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.