Variant position: 258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 871 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 ARCDRYCQCFRGRCHPVDGT CACEPGYRGKYCREPCPAGFY
Mouse ARCDRYCQCSHGRCHPVDGT CACDPGYRGKYCREPCPAGFY
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
44 – 871 Scavenger receptor class F member 2
44 – 441 Extracellular
236 – 270 EGF-like 6
246 – 258
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Anastasio N.; Ben-Omran T.; Teebi A.; Ha K.C.; Lalonde E.; Ali R.; Almureikhi M.; Der Kaloustian V.M.; Liu J.; Rosenblatt D.S.; Majewski J.; Jerome-Majewska L.A.;
Am. J. Hum. Genet. 87:553-559(2010)
Cited for: VARIANT VDEGS TYR-258;
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