Variant position: 297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 506 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 HEDLEIGAHHLGFLWASVAN TIPTMFWAMYYLLRHPEAMAA
Mouse HDDPEIGAHHLGFLWASLAN TIPAMFWAMYYILRHPEAMEA
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 – 506 Cytochrome P450 7B1
289 – 309 Helical
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C.; Boukhris A.; Durr A.; Beetz C.; Truchetto J.; Tesson C.; Tsaousidou M.; Forlani S.; Guyant-Marechal L.; Fontaine B.; Guimaraes J.; Isidor B.; Chazouilleres O.; Wendum D.; Grid D.; Chevy F.; Chinnery P.F.; Coutinho P.; Azulay J.P.; Feki I.; Mochel F.; Wolf C.; Mhiri C.; Crosby A.; Brice A.; Stevanin G.;
Cited for: VARIANTS SPG5A ALA-297; CYS-417; HIS-417; ILE-470 AND CYS-486; VARIANTS PRO-19; TYR-106; SER-287 AND HIS-324;
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A.; Crimella C.; Tenderini E.; Martinuzzi A.; D'Angelo M.G.; Musumeci O.; Toscano A.; Scarlato M.; Fantin M.; Bresolin N.; Bassi M.T.;
Clin. Genet. 81:150-157(2012)
Cited for: VARIANTS SPG5A VAL-87; LEU-285; ALA-297 AND ALA-443;
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