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Protein

Son of sevenless homolog 1

Gene

SOS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-112412 SOS-mediated signalling
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1250196 SHC1 events in ERBB2 signaling
R-HSA-1250347 SHC1 events in ERBB4 signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-1433559 Regulation of KIT signaling
R-HSA-167044 Signalling to RAS
R-HSA-179812 GRB2 events in EGFR signaling
R-HSA-180336 SHC1 events in EGFR signaling
R-HSA-186763 Downstream signal transduction
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-1963640 GRB2 events in ERBB2 signaling
R-HSA-210993 Tie2 Signaling
R-HSA-2179392 EGFR Transactivation by Gastrin
R-HSA-2424491 DAP12 signaling
R-HSA-2428933 SHC-related events triggered by IGF1R
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-428540 Activation of RAC1
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655291 Signaling by FGFR4 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-74749 Signal attenuation
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-8851805 MET activates RAS signaling
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-8853659 RET signaling
R-HSA-8983432 Interleukin-15 signaling
R-HSA-9026519 Activated NTRK2 signals through RAS
R-HSA-9027284 Erythropoietin activates RAS
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3
R-HSA-9034864 Activated NTRK3 signals through RAS
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q07889

SIGNOR Signaling Network Open Resource

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SIGNORi
Q07889

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Son of sevenless homolog 1
Short name:
SOS-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SOS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000115904.12

Human Gene Nomenclature Database

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HGNCi
HGNC:11187 SOS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
182530 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q07889

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Fibromatosis, gingival, 1 (GINGF1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.
See also OMIM:135300
Noonan syndrome 4 (NS4)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis.
See also OMIM:610733
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066032102P → R in NS4. 1 Publication1
Natural variantiVAR_030423108E → K in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517164EnsemblClinVar.1
Natural variantiVAR_066033112P → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517166EnsemblClinVar.1
Natural variantiVAR_066034170K → E in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517172EnsemblClinVar.1
Natural variantiVAR_066035252I → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs142094234EnsemblClinVar.1
Natural variantiVAR_030424266T → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852812EnsemblClinVar.1
Natural variantiVAR_030425269M → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852813EnsemblClinVar.1
Natural variantiVAR_064504269M → T in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852813EnsemblClinVar.1
Natural variantiVAR_030426309D → Y in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517180EnsemblClinVar.1
Natural variantiVAR_030427337Y → C in NS4. 1 PublicationCorresponds to variant dbSNP:rs724160007EnsemblClinVar.1
Natural variantiVAR_066037422M → V in NS4. 1 Publication1
Natural variantiVAR_066038424E → K in NS4. 1 PublicationCorresponds to variant dbSNP:rs730881041EnsemblClinVar.1
Natural variantiVAR_066039427 – 430KNID → N in NS4. 1 Publication4
Natural variantiVAR_066040432 – 433Missing in NS4. 1 Publication2
Natural variantiVAR_030428432W → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs267607080EnsemblClinVar.1
Natural variantiVAR_030429433E → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517147EnsemblClinVar.1
Natural variantiVAR_066041434G → K in NS4; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs730881048EnsemblClinVar.1
Natural variantiVAR_030430434G → R in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517148EnsemblClinVar.1
Natural variantiVAR_066042437I → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517150EnsemblClinVar.1
Natural variantiVAR_030431441C → Y in NS4. 2 PublicationsCorresponds to variant dbSNP:rs727504295EnsemblClinVar.1
Natural variantiVAR_064505477Q → R in NS4. 2 PublicationsCorresponds to variant dbSNP:rs730881044EnsemblClinVar.1
Natural variantiVAR_066044478P → R in NS4. 1 Publication1
Natural variantiVAR_066045482G → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs1431574387Ensembl.1
Natural variantiVAR_066046490L → R in NS4. 1 Publication1
Natural variantiVAR_064506497R → Q in NS4; one patient with Noonan syndrome also carries a likely pathogenic mutation Ser-261 in RAF1; the mutant protein cannot induce ERK1 phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs371314838EnsemblClinVar.1
Natural variantiVAR_030432548S → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517149EnsemblClinVar.1
Natural variantiVAR_066047549T → K in NS4. 1 PublicationCorresponds to variant dbSNP:rs730881046EnsemblClinVar.1
Natural variantiVAR_030433550L → P in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517153EnsemblClinVar.1
Natural variantiVAR_030434552R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 PublicationsCorresponds to variant dbSNP:rs137852814EnsemblClinVar.1
Natural variantiVAR_030435552R → K in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_066048552R → M in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_030436552R → S in NS4. 2 PublicationsCorresponds to variant dbSNP:rs267607079EnsemblClinVar.1
Natural variantiVAR_066049552R → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_066050554 – 558LDVTM → K in NS4. 1 Publication5
Natural variantiVAR_066052623F → I in NS4. 1 Publication1
Natural variantiVAR_030438702Y → H in NS4. 2 PublicationsCorresponds to variant dbSNP:rs727505381EnsemblClinVar.1
Natural variantiVAR_030439729W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication1
Natural variantiVAR_030440733I → F in NS4. 2 PublicationsCorresponds to variant dbSNP:rs574088829EnsemblClinVar.1
Natural variantiVAR_030441846E → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517159EnsemblClinVar.1
Natural variantiVAR_066055894P → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs1367714753Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi282C → R: Increases MAPK3 phosphorylation in response to EGF stimulation. 1 Publication1
Mutagenesisi1134S → A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1161. 1 Publication1
Mutagenesisi1161S → A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1134. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
6654

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SOS1

MalaCards human disease database

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MalaCardsi
SOS1
MIMi135300 phenotype
610733 phenotype

Open Targets

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OpenTargetsi
ENSG00000115904

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
2024 Hereditary gingival fibromatosis
648 Noonan syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36024

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2079846

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SOS1

Domain mapping of disease mutations (DMDM)

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DMDMi
6094322

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000688941 – 1333Son of sevenless homolog 1Add BLAST1333

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1078PhosphoserineBy similarity1
Modified residuei1082PhosphoserineCombined sources1
Modified residuei1134Phosphoserine; by RPS6KA3Combined sources1 Publication1
Modified residuei1161Phosphoserine; by RPS6KA31 Publication1
Modified residuei1178PhosphoserineCombined sources1
Modified residuei1210PhosphoserineCombined sources1
Modified residuei1229PhosphoserineCombined sources1
Modified residuei1275PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q07889

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q07889

MaxQB - The MaxQuant DataBase

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MaxQBi
Q07889

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q07889

PeptideAtlas

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PeptideAtlasi
Q07889

PRoteomics IDEntifications database

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PRIDEi
Q07889

ProteomicsDB human proteome resource

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ProteomicsDBi
58554

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q07889

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q07889

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in gingival tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000115904 Expressed in 234 organ(s), highest expression level in amniotic fluid

CleanEx database of gene expression profiles

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CleanExi
HS_SOS1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q07889 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q07889 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB005396
HPA012613

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with GRB2 (via SH3 domain) (PubMed:8493579, PubMed:7664271). Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains) (PubMed:7664271). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with NCK1 and NCK2 (PubMed:10026169). Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts (Ser-1134 and Ser-1161 phosphorylated form) with YWHAB and YWHAE (PubMed:22827337).By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112537, 49 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-395 GTPase HRAS - Son of sevenless homolog 1 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q07889

Database of interacting proteins

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DIPi
DIP-31802N

Protein interaction database and analysis system

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IntActi
Q07889, 33 interactors

Molecular INTeraction database

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MINTi
Q07889

STRING: functional protein association networks

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STRINGi
9606.ENSP00000384675

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q07889

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11333
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AWENMR-A422-551[»]
1BKDX-ray2.80S568-1044[»]
1DBHX-ray2.30A198-551[»]
1NVUX-ray2.20S566-1046[»]
1NVVX-ray2.18S566-1046[»]
1NVWX-ray2.70S566-1046[»]
1NVXX-ray3.20S566-1046[»]
1Q9CX-ray3.21A/B/C/D/E/F/G/H/I1-191[»]
1XD2X-ray2.70C566-1049[»]
1XD4X-ray3.64A/B198-1049[»]
1XDVX-ray4.10A/B198-1044[»]
2II0X-ray2.02A564-1049[»]
3KSYX-ray3.18A1-1049[»]
4NYIX-ray2.96S566-1046[»]
4NYJX-ray2.85S566-1046[»]
4NYMX-ray3.55S566-1046[»]
4URUX-ray2.83S564-1049[»]
4URVX-ray2.58S564-1049[»]
4URWX-ray2.76S564-1049[»]
4URXX-ray2.49S564-1049[»]
4URYX-ray2.47S564-1049[»]
4URZX-ray2.24S564-1049[»]
4US0X-ray2.17S564-1049[»]
4US1X-ray2.65S564-1049[»]
4US2X-ray2.48S564-1049[»]
5WFOX-ray1.99N566-1046[»]
5WFPX-ray2.08N566-1046[»]
5WFQX-ray2.26N566-1046[»]
5WFRX-ray2.46N566-1046[»]
6BVIX-ray1.75B566-1046[»]
6BVJX-ray1.75B566-1046[»]
6BVKX-ray1.80B566-1046[»]
6BVLX-ray1.75B566-1046[»]
6BVMX-ray1.80B566-1046[»]
6D55X-ray1.68B566-1046[»]
6D56X-ray1.68B566-1046[»]
6D59X-ray1.70B566-1046[»]
6D5EX-ray1.75B566-1046[»]
6D5GX-ray1.92B566-1046[»]
6D5HX-ray1.80B566-1046[»]
6D5JX-ray1.75B566-1046[»]
6D5LX-ray1.70B566-1046[»]
6D5MX-ray2.08S566-1046[»]
6D5VX-ray2.04S566-1046[»]
6F08X-ray1.90D/K/N/Q1155-1167[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q07889

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q07889

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q07889

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini200 – 390DHPROSITE-ProRule annotationAdd BLAST191
Domaini444 – 548PHPROSITE-ProRule annotationAdd BLAST105
Domaini597 – 741N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST145
Domaini780 – 1019Ras-GEFPROSITE-ProRule annotationAdd BLAST240

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1258 – 1261Poly-Pro4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3417 Eukaryota
ENOG410XR96 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155423

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013040

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG017831

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q07889

KEGG Orthology (KO)

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KOi
K03099

Identification of Orthologs from Complete Genome Data

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OMAi
MENGDQP

Database of Orthologous Groups

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OrthoDBi
1344247at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q07889

TreeFam database of animal gene trees

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TreeFami
TF317296

Family and domain databases

Conserved Domains Database

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CDDi
cd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.20.10, 1 hit
1.10.840.10, 2 hits
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR009072 Histone-fold
IPR007125 Histone_H2A/H2B/H3
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR019804 Ras_G-nucl-exch_fac_CS
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR23113 PTHR23113, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00125 Histone, 1 hit
PF00169 PH, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47113 SSF47113, 1 hit
SSF48065 SSF48065, 1 hit
SSF48366 SSF48366, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS00720 RASGEF, 1 hit
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q07889-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE
60 70 80 90 100
LILQLLNMLC QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR
110 120 130 140 150
NPLSLPVEKI HPLLKEVLGY KIDHQVSVYI VAVLEYISAD ILKLVGNYVR
160 170 180 190 200
NIRHYEITKQ DIKVAMCADK VLMDMFHQDV EDINILSLTD EEPSTSGEQT
210 220 230 240 250
YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN DVENIFSRIV
260 270 280 290 300
DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR
310 320 330 340 350
DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC
360 370 380 390 400
LHYFELLKQL EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL
410 420 430 440 450
SESACRFYSQ QMKGKQLAIK KMNEIQKNID GWEGKDIGQC CNEFIMEGTL
460 470 480 490 500
TRVGAKHERH IFLFDGLMIC CKSNHGQPRL PGASNAEYRL KEKFFMRKVQ
510 520 530 540 550
INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA LISLQYRSTL
560 570 580 590 600
ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI
610 620 630 640 650
IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI
660 670 680 690 700
PEPEPTEADR IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH
710 720 730 740 750
FYDFERDAYL LQRMEEFIGT VRGKAMKKWV ESITKIIQRK KIARDNGPGH
760 770 780 790 800
NITFQSSPPT VEWHISRPGH IETFDLLTLH PIEIARQLTL LESDLYRAVQ
810 820 830 840 850
PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV ETENLEERVA
860 870 880 890 900
VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI
910 920 930 940 950
LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR
960 970 980 990 1000
HGKELINFSK RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS
1010 1020 1030 1040 1050
MEKEFTDYLF NKSLEIEPRN PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM
1060 1070 1080 1090 1100
RHPTPLQQEP RKISYSRIPE SETESTASAP NSPRTPLTPP PASGASSTTD
1110 1120 1130 1140 1150
VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL TKGTDEVPVP
1160 1170 1180 1190 1200
PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD
1210 1220 1230 1240 1250
RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP
1260 1270 1280 1290 1300
NSPSPFTPPP PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ
1310 1320 1330
HIPKLPPKTY KREHTHPSMH RDGPPLLENA HSS
Length:1,333
Mass (Da):152,464
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC6B99CCA11A8DE45
GO
Isoform 2 (identifier: Q07889-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.
     359-371: QLEEKSEDQEDKE → FPFGDLSRLRDSV
     372-1333: Missing.

Note: No experimental confirmation available.
Show »
Length:314
Mass (Da):36,073
Checksum:i6DD097AB322E714D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9C8G5E9C8_HUMAN
Son of sevenless homolog 1 (Drosoph...
SOS1 hCG_1641052
1,318Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9K0N6C9K0N6_HUMAN
Son of sevenless homolog 1
SOS1
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06603137T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs150565592EnsemblClinVar.1
Natural variantiVAR_066032102P → R in NS4. 1 Publication1
Natural variantiVAR_030423108E → K in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517164EnsemblClinVar.1
Natural variantiVAR_066033112P → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517166EnsemblClinVar.1
Natural variantiVAR_066034170K → E in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517172EnsemblClinVar.1
Natural variantiVAR_066035252I → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs142094234EnsemblClinVar.1
Natural variantiVAR_030424266T → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852812EnsemblClinVar.1
Natural variantiVAR_030425269M → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852813EnsemblClinVar.1
Natural variantiVAR_064504269M → T in NS4. 3 PublicationsCorresponds to variant dbSNP:rs137852813EnsemblClinVar.1
Natural variantiVAR_030426309D → Y in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517180EnsemblClinVar.1
Natural variantiVAR_030427337Y → C in NS4. 1 PublicationCorresponds to variant dbSNP:rs724160007EnsemblClinVar.1
Natural variantiVAR_066036378T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs397517146EnsemblClinVar.1
Natural variantiVAR_066037422M → V in NS4. 1 Publication1
Natural variantiVAR_066038424E → K in NS4. 1 PublicationCorresponds to variant dbSNP:rs730881041EnsemblClinVar.1
Natural variantiVAR_066039427 – 430KNID → N in NS4. 1 Publication4
Natural variantiVAR_066040432 – 433Missing in NS4. 1 Publication2
Natural variantiVAR_030428432W → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs267607080EnsemblClinVar.1
Natural variantiVAR_030429433E → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517147EnsemblClinVar.1
Natural variantiVAR_066041434G → K in NS4; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs730881048EnsemblClinVar.1
Natural variantiVAR_030430434G → R in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517148EnsemblClinVar.1
Natural variantiVAR_066042437I → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517150EnsemblClinVar.1
Natural variantiVAR_030431441C → Y in NS4. 2 PublicationsCorresponds to variant dbSNP:rs727504295EnsemblClinVar.1
Natural variantiVAR_064505477Q → R in NS4. 2 PublicationsCorresponds to variant dbSNP:rs730881044EnsemblClinVar.1
Natural variantiVAR_066043478P → L Found in patients with Noonan syndrome. 1 Publication1
Natural variantiVAR_066044478P → R in NS4. 1 Publication1
Natural variantiVAR_066045482G → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs1431574387Ensembl.1
Natural variantiVAR_066046490L → R in NS4. 1 Publication1
Natural variantiVAR_064506497R → Q in NS4; one patient with Noonan syndrome also carries a likely pathogenic mutation Ser-261 in RAF1; the mutant protein cannot induce ERK1 phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs371314838EnsemblClinVar.1
Natural variantiVAR_030432548S → R in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517149EnsemblClinVar.1
Natural variantiVAR_066047549T → K in NS4. 1 PublicationCorresponds to variant dbSNP:rs730881046EnsemblClinVar.1
Natural variantiVAR_030433550L → P in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517153EnsemblClinVar.1
Natural variantiVAR_030434552R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 PublicationsCorresponds to variant dbSNP:rs137852814EnsemblClinVar.1
Natural variantiVAR_030435552R → K in NS4. 2 PublicationsCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_066048552R → M in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_030436552R → S in NS4. 2 PublicationsCorresponds to variant dbSNP:rs267607079EnsemblClinVar.1
Natural variantiVAR_066049552R → T in NS4. 1 PublicationCorresponds to variant dbSNP:rs397517154EnsemblClinVar.1
Natural variantiVAR_066050554 – 558LDVTM → K in NS4. 1 Publication5
Natural variantiVAR_066051569L → V2 PublicationsCorresponds to variant dbSNP:rs200786705EnsemblClinVar.1
Natural variantiVAR_066052623F → I in NS4. 1 Publication1
Natural variantiVAR_030437655P → L4 PublicationsCorresponds to variant dbSNP:rs56219475EnsemblClinVar.1
Natural variantiVAR_030438702Y → H in NS4. 2 PublicationsCorresponds to variant dbSNP:rs727505381EnsemblClinVar.1
Natural variantiVAR_066053708A → T1 PublicationCorresponds to variant dbSNP:rs140811086EnsemblClinVar.1
Natural variantiVAR_030439729W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication1
Natural variantiVAR_030440733I → F in NS4. 2 PublicationsCorresponds to variant dbSNP:rs574088829EnsemblClinVar.1
Natural variantiVAR_066054784I → T in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs1335137808Ensembl.1
Natural variantiVAR_030441846E → K in NS4. 3 PublicationsCorresponds to variant dbSNP:rs397517159EnsemblClinVar.1
Natural variantiVAR_066055894P → R in NS4. 1 PublicationCorresponds to variant dbSNP:rs1367714753Ensembl.1
Natural variantiVAR_030442977Q → R1 Publication1
Natural variantiVAR_0660561011N → S1 PublicationCorresponds to variant dbSNP:rs8192671EnsemblClinVar.1
Natural variantiVAR_0660571131R → K in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs768113420EnsemblClinVar.1
Natural variantiVAR_0660581140L → I in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs375550588EnsemblClinVar.1
Natural variantiVAR_0660591257T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs553805862EnsemblClinVar.1
Natural variantiVAR_0304431320H → R2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0564631 – 57Missing in isoform 2. 1 Publication