Variant position: 35 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 372 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 EVQRRLAAGACWVRRGARLY DLSSFVRHHPGGEQLLRARAG
Mouse EVQRRLAAGACWVRRGASLY DLTSFVRHHPGGEQLLLARAG
Rat EVQRRLAAGACWVRRGASLY DLTGFVRHHPGGEQLLLARAG
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 – 372 Fatty acid 2-hydroxylase
8 – 86 Cytochrome b5 heme-binding
43 – 43 Iron (heme axial ligand)
1 – 213 Missing. In isoform 2.
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
Edvardson S.; Hama H.; Shaag A.; Gomori J.M.; Berger I.; Soffer D.; Korman S.H.; Taustein I.; Saada A.; Elpeleg O.;
Am. J. Hum. Genet. 83:643-648(2008)
Cited for: VARIANT SPG35 TYR-35;
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