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UniProtKB - Q07889 (SOS1_HUMAN)

Protein

Son of sevenless homolog 1

Gene

SOS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-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-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
SignaLinkiQ07889
SIGNORiQ07889

Names & Taxonomyi

Protein namesi
Recommended name:
Son of sevenless homolog 1
Short name:
SOS-1
Gene namesi
Name:SOS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115904.12
HGNCiHGNC:11187 SOS1
MIMi182530 gene
neXtProtiNX_Q07889

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

Pathology & Biotechi

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
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 Publication1
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
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

DisGeNETi6654
GeneReviewsiSOS1
MalaCardsiSOS1
MIMi135300 phenotype
610733 phenotype
OpenTargetsiENSG00000115904
Orphaneti2024 Hereditary gingival fibromatosis
648 Noonan syndrome
PharmGKBiPA36024

Chemistry databases

ChEMBLiCHEMBL2079846

Polymorphism and mutation databases

BioMutaiSOS1
DMDMi6094322

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000688941 – 1333Son of sevenless homolog 1Add BLAST1333

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

EPDiQ07889
MaxQBiQ07889
PaxDbiQ07889
PeptideAtlasiQ07889
PRIDEiQ07889
ProteomicsDBi58554

PTM databases

iPTMnetiQ07889
PhosphoSitePlusiQ07889

Expressioni

Tissue specificityi

Expressed in gingival tissues.1 Publication

Gene expression databases

BgeeiENSG00000115904 Expressed in 234 organ(s), highest expression level in amniotic fluid
CleanExiHS_SOS1
ExpressionAtlasiQ07889 baseline and differential
GenevisibleiQ07889 HS

Organism-specific databases

HPAiCAB005396
HPA012613

Interactioni

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

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112537, 49 interactors
ComplexPortaliCPX-395 GTPase HRAS - Son of sevenless homolog 1 complex
CORUMiQ07889
DIPiDIP-31802N
IntActiQ07889, 33 interactors
MINTiQ07889
STRINGi9606.ENSP00000384675

Chemistry databases

BindingDBiQ07889

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ07889
SMRiQ07889
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ07889

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi1258 – 1261Poly-Pro4

Phylogenomic databases

eggNOGiKOG3417 Eukaryota
ENOG410XR96 LUCA
GeneTreeiENSGT00910000143985
HOGENOMiHOG000013040
HOVERGENiHBG017831
InParanoidiQ07889
KOiK03099
OMAiMENGDQP
OrthoDBiEOG091G04UL
PhylomeDBiQ07889
TreeFamiTF317296

Family and domain databases

CDDicd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.10.20.10, 1 hit
1.10.840.10, 2 hits
1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView 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
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
PfamiView protein in Pfam
PF00125 Histone, 1 hit
PF00169 PH, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF47113 SSF47113, 1 hit
SSF48065 SSF48065, 1 hit
SSF48366 SSF48366, 1 hit
PROSITEiView 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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:
C9K0N6C9K0N6_HUMAN
Son of sevenless homolog 1
SOS1
102Annotation score:

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 Publication1
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:rs768113420Ensembl.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
Alternative sequenceiVSP_0564631 – 57Missing in isoform 2. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_056464359 – 371QLEEK…QEDKE → FPFGDLSRLRDSV in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_056465372 – 1333Missing in isoform 2. 1 Publication