Sequence information
Variant position: 514 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:
NIRVEEGMHLLITGPNGCGK
S SLFRILGGLWPTYGGVLYKP
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 NIRVEEGMHLLITGPNGCGKS SLFRILGGLWPTYGGVLYKP
Mouse NIRVEEGMHLLITGPNGCGKS SLFRILGGLWPTYSGVLYKP
Rat NIRVEEGMHLLITGPNGCGKS SLFRILGGLWPTYSGVLYKP
Zebrafish NMQVDEGMHLLITGPNGCGKS SLFRILSGLWPVYSGVLYKP
Slime mold SINVKRGNNLLIMGPSGSGKS SLIRIINGLWPFFKGSIDRP
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
Nucleotide binding
507 – 514
ATP
Literature citations
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
Montagna G.; Di Biase A.; Cappa M.; Melone M.A.B.; Piantadosi C.; Colabianchi D.; Patrono C.; Attori L.; Cannelli N.; Cotrufo R.; Salvati S.; Santorelli F.M.;
Hum. Mutat. 25:222-222(2005)
Cited for: VARIANTS ALD TRP-88; CYS-152; CYS-181; SER-343; PRO-503; ARG-514 AND HIS-554;
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.