Variant position: 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 238 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 WLHIHGGTCSRQELGVSDVL GYVHPDLLKDFCMNPQTVLLL
Mouse WLHIHGGTCSRQELGVSDVL GYVNPDLLKDFCMNPQTVLLL
Zebrafish WLRVHGGTCPRQELGVADVL GYIDDKLIDEFCINSQSILLL
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 – 238 Transmembrane protein 127
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L.; Schiavi F.; Cascon A.; Qin Y.; Inglada-Perez L.; King E.E.; Toledo R.A.; Ercolino T.; Rapizzi E.; Ricketts C.J.; Mori L.; Giacche M.; Mendola A.; Taschin E.; Boaretto F.; Loli P.; Iacobone M.; Rossi G.P.; Biondi B.; Lima-Junior J.V.; Kater C.E.; Bex M.; Vikkula M.; Grossman A.B.; Gruber S.B.; Barontini M.; Persu A.; Castellano M.; Toledo S.P.; Maher E.R.; Mannelli M.; Opocher G.; Robledo M.; Dahia P.L.;
Cited for: VARIANTS PCC SER-53; ASN-70; ARG-73; MET-90; TRP-94; ARG-140 AND TYR-140; CHARACTERIZATION OF VARIANTS ASN-70; TRP-94; ARG-140 AND TYR-140; SUBCELLULAR LOCATION;
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