Variant position: 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 SGSMEKRKSMYTRDYKKLGF INHVNPAMDFTQTPPGMLALD
Mouse SGSMEKRKSMYTRDYKKLGF INHVNPAMDFTQTPPGMLALD
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 – 727 Engulfment and cell motility protein 1
319 – 492 ELMO
344 – 344 Phosphoserine
1 – 480 Missing. In isoform 2.
299 – 362 VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI -> MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM. In isoform 3.
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Funari V.A.; Krakow D.; Nevarez L.; Chen Z.; Funari T.L.; Vatanavicharn N.; Wilcox W.R.; Rimoin D.L.; Nelson S.F.; Cohn D.H.;
Am. J. Hum. Genet. 87:532-537(2010)
Cited for: VARIANT SER-362;
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