UniProtKB/SwissProt variant VAR

Variant information

Variant position:

173

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 Methionine (M) to Isoleucine (I) at position 173 (M173I, p.Met173Ile).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

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 NSLH1; significantly decreases ERK1/2 activity; does not affect cytoplasm and nucleus localization; does not affect SHOC2-MRAS-RAF1 complex assembly; impairs interaction with phosphatase 1c.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs730881020 [ dbSNP | Ensembl ]

Sequence information

Variant position:

173

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

Protein sequence length:

582

The length of the canonical sequence.

Location on the sequence:

LSENSLTSLPDSLDNLKKLR M LDLRHNKLREIPSVVYRLDS

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                         LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLDS

Mouse                         LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLDS

Rat                           LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLDS

Bovine                        LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLDS

Chicken                       LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPSVVYRLTS

Xenopus laevis                LSENSLTSLPDSLDNLKKLCMLDLRHNKLREIPPVVYRLSS

Zebrafish                     LSENSLTSLPDSLDNLKKLRMLDLRHNKLREIPAVVYRVSS

Caenorhabditis elegans        LSENALTSLPDSLASLESLETLDLRHNKLTEVPSVIYKIGS

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 – 582	Leucine-rich repeat protein SHOC-2
Repeat	170 – 191	LRR 4

Literature citations

A Novel SHOC2 Variant in Rasopathy.
Hannig V.; Jeoung M.; Jang E.R.; Phillips J.A. III; Galperin E.;
Hum. Mutat. 35:1290-1294(2014)
Cited for: VARIANT NSLH1 ILE-173; CHARACTERIZATION OF VARIANT NSLH1 ILE-173; FUNCTION; INTERACTION WITH MRAS AND RAF1 AND PHOSPHATASE 1C; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQ13: Variant p.Met173Ile