Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 201 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 YSYKAVKSKDIKEYVKWMMY WIIFALFTTAETFTDIFLCWF
Mouse YSYKAVKSKDIKEYVKWMMY WIIFALFTTAETFTDIFLCWF
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 – 201 Receptor expression-enhancing protein 1
35 – 55 Helical
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
Falk J.; Rohde M.; Bekhite M.M.; Neugebauer S.; Hemmerich P.; Kiehntopf M.; Deufel T.; Huebner C.A.; Beetz C.;
Hum. Mutat. 35:497-504(2014)
Cited for: FUNCTION; VARIANT SPG31 ARG-19; VARIANT LYS-55; CHARACTERIZATION OF VARIANTS SPG31 ARG-19; LEU-19; GLU-20; PHE-23; ARG-42 AND ASN-56; CHARACTERIZATION OF VARIANT LYS-55;
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C.; Depienne C.; Benard G.; Boukhris A.; Mundwiller E.; Sole G.; Coupry I.; Pilliod J.; Martin-Negrier M.L.; Fedirko E.; Forlani S.; Cazeneuve C.; Hannequin D.; Charles P.; Feki I.; Pinel J.F.; Ouvrard-Hernandez A.M.; Lyonnet S.; Ollagnon-Roman E.; Yaouanq J.; Toutain A.; Dussert C.; Fontaine B.; Leguern E.; Lacombe D.; Durr A.; Rossignol R.; Brice A.; Stevanin G.;
Hum. Mutat. 32:1118-1127(2011)
Cited for: VARIANTS SPG31 LEU-19; PHE-23; ARG-42 AND ASN-56;
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