Variant position: 192 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 555 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 GLRLTALLGSGLNCLGAWIK CGSVQQHLFWVTMLGQCLCSV
Mouse GLRLTALLGSGLNCLGAWVK CGSVQRHLFWVTMLGQILCSV
Cat GLRLTALLGSGLNCLGAWVK CASVQQHLFWVTMLGQCLCSV
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 – 555 Feline leukemia virus subgroup C receptor-related protein 1
175 – 195 Helical
1 – 276 Missing. In isoform 2.
Mutations in the heme exporter FLVCR1 cause sensory neurodegeneration with loss of pain perception.
Chiabrando D.; Castori M.; di Rocco M.; Ungelenk M.; Giesselmann S.; Di Capua M.; Madeo A.; Grammatico P.; Bartsch S.; Huebner C.A.; Altruda F.; Silengo L.; Tolosano E.; Kurth I.;
PLoS Genet. 12:E1006461-E1006461(2016)
Cited for: FUNCTION; INVOLVEMENT IN SENSORY NEUROPATHY; VARIANTS ARG-192 AND SER-221;
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Rajadhyaksha A.M.; Elemento O.; Puffenberger E.G.; Schierberl K.C.; Xiang J.Z.; Putorti M.L.; Berciano J.; Poulin C.; Brais B.; Michaelides M.; Weleber R.G.; Higgins J.J.;
Am. J. Hum. Genet. 87:643-654(2010)
Cited for: VARIANTS PCARP ASP-121; ARG-192 AND THR-241;
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