UniProtKB/Swiss-Prot O14508: Variant p.Arg96Leu

Suppressor of cytokine signaling 2
Gene: SOCS2
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Variant information Variant position:

96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Leucine (L) at position 96 (R96L, p.Arg96Leu). 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 medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Decreased ability to bind phosphorylated substrates. Any additional useful information about the variant.

Sequence information Variant position:

96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

198 The length of the canonical sequence.
Location on the sequence:

SHSDYLLTISVKTSAGPTNL R IEYQDGKFRLDSIICVKSKL 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                         SHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKL

Mouse                         SHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKL

Rat                           SHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKL

Pig                           SHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKL

Bovine                        SHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKL

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
Chain	1 – 198	Suppressor of cytokine signaling 2
Domain	48 – 156	SH2
Mutagenesis	87 – 87	K -> R. No effect on protein half-life.
Beta strand	91 – 100

Literature citations
Structural insights into substrate recognition by the SOCS2 E3 ubiquitin ligase.
Kung W.W.; Ramachandran S.; Makukhin N.; Bruno E.; Ciulli A.;
Nat. Commun. 10:2534-2534(2019)
Cited for: X-RAY CRYSTALLOGRAPHY (1.98 ANGSTROMS) OF 30-198 IN COMPLEX SUBSTRATE PEPTIDES WITH ELOB AND ELOC; FUNCTION; PATHWAY; IDENTIFICATION IN THE ECS(SOCS2) COMPLEX; VARIANTS ASP-94; LEU-96; VAL-106 AND TYR-133; CHARACTERIZATION OF VARIANTS ASP-94; LEU-96; VAL-106 AND TYR-133; Discovery of an exosite on the SOCS2-SH2 domain that enhances SH2 binding to phosphorylated ligands.
Linossi E.M.; Li K.; Veggiani G.; Tan C.; Dehkhoda F.; Hockings C.; Calleja D.J.; Keating N.; Feltham R.; Brooks A.J.; Li S.S.; Sidhu S.S.; Babon J.J.; Kershaw N.J.; Nicholson S.E.;
Nat. Commun. 12:7032-7032(2021)
Cited for: X-RAY CRYSTALLOGRAPHY (3.19 ANGSTROMS) OF 32-198 IN COMPLEX WITH ELOB AND ELOC; FUNCTION; PATHWAY; IDENTIFICATION IN THE ECS(SOCS2) COMPLEX; CHARACTERIZATION OF VARIANT LEU-96;

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.