Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 315 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 VHSSARAPLSRSISTVSSGS RSSTRTSTSSSSSEQRLLGSS
Mouse VHSS-RAPLSRSISTVSSGS RSSTRTSTSSSSSEQRLLGPS
Bovine AHPSARASLARSISTVSSGS RSSTRTSTSSSSSEQRLLGSS
Chicken THASPRAPLSRSISTVSTGS RSSTRTSTSSNSSEQRLLGSS
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 – 315 Protein sprouty homolog 2
51 – 140 Disordered
118 – 315 Required for interaction with CAV1
95 – 140 Polar residues
115 – 115 S -> A. Abolishes interaction with GRB2.
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
Milillo A.; La Carpia F.; Costanzi S.; D'Urbano V.; Martini M.; Lanuti P.; Vischini G.; Larocca L.M.; Marchisio M.; Miscia S.; Amoroso A.; Gurrieri F.; Sangiorgi E.;
Eur. J. Hum. Genet. 23:1673-1678(2015)
Cited for: VARIANT IGAN3 TRP-119; CHARACTERIZATION OF VARIANT IGAN3 TRP-119;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.