Variant position: 1337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1342 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 EATDSAFDNPDYWHSRLFPK ANAQRT
Mouse EATDSAFDNPDYWHSRLFPK ANAQRI
Rat EATDSAFDNPDYWHSRLFPK ANAQRT
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
20 – 1342 Receptor tyrosine-protein kinase erbB-3
665 – 1342 Cytoplasmic
184 – 1342 Missing. In isoform 2.
332 – 1342 Missing. In isoform 3.
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.
Braunstein E.M.; Li R.; Sobreira N.; Marosy B.; Hetrick K.; Doheny K.; Gocke C.D.; Valle D.; Brodsky R.A.; Cheng L.;
Cited for: VARIANT FERLK THR-1337; CHARACTERIZATION OF VARIANT FERLK THR-1337; INVOLVEMENT IN FERLK; FUNCTION;
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