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UniProtKB/Swiss-Prot O43597: Variant p.Arg119Trp

Protein sprouty homolog 2
Gene: SPRY2
Variant information

Variant position:  119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Tryptophan (W) at position 119 (R119W, p.Arg119Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In IGAN3; no effect on protein expression; negatively regulates ERK1 and ERK2 cascade.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   VHSSARAPLSRSISTVSSGS  R SSTRTSTSSSSSEQRLLGSS
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                         VHSSARAPLSRSISTVSSGSRSSTRTSTSSSSSEQRLLGSS

Mouse                         VHSS-RAPLSRSISTVSSGSRSSTRTSTSSSSSEQRLLGPS

Bovine                        AHPSARASLARSISTVSSGSRSSTRTSTSSSSSEQRLLGSS

Chicken                       THASPRAPLSRSISTVSTGSRSSTRTSTSSNSSEQRLLGSS

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.

TypePositionsDescription
Chain 1 – 315 Protein sprouty homolog 2
Region 51 – 140 Disordered
Region 118 – 315 Required for interaction with CAV1
Compositional bias 95 – 140 Polar residues
Mutagenesis 115 – 115 S -> A. Abolishes interaction with GRB2.


Literature citations

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;

Disclaimer: 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.