PDB ID 1AYC CHAIN A
Protein name PROTEIN-TYROSINE PHOSPHATASE SYP (N-TERMINAL SH2 DOMAIN)
Uniprot Accession P35235
The number of similar proteins 8
The number of binding states 2
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1AYC (CHAIN: A)
1 Monomeric state
2 4JE4  
Downdload
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Molecule viewer
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partners
  1
  0
Sequence information
1   MRRWFHPNIT   GVEAENLLLT   RGVDGSFLAR   PSKSNPGDFT   LSVRRNGAVT   50
51   HIKIQNTGDY   YDLYGGEKFA   TLAELVQYYM   EHHGQLKEKN   GDVIELKYPL   100
101   N           150
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
4_ARG GLY ClinVar
chr12:112856925
rs886041517 Likely pathogenic not provided [MedGen:CN517202]
42_THR ALA ClinVar
chr12:112884189
rs397507501 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
43_LEU PHE ClinVar
chr12:112884192
- Likely pathogenic not provided [MedGen:CN517202]
52_THR ILE ClinVar
chr12:112888139
rs397507503 Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
58_ASN HIS ClinVar
chr12:112888156
rs397507505 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
58_ASN ASP ClinVar
chr12:112888156
rs397507505 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
58_ASN LYS ClinVar
chr12:112888158
rs397507506 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
58_ASN LYS ClinVar
chr12:112888158
rs397507506 Pathogenic/Likely pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
58_ASN TYR ClinVar
chr12:112888156
rs397507505 Pathogenic not provided [MedGen:CN517202]
60_GLY SER ClinVar
chr12:112888162
rs397507507 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
60_GLY ALA ClinVar
chr12:112888163
rs397507509 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
60_GLY CYS ClinVar
chr12:112888162
rs397507507 Pathogenic not provided [MedGen:CN517202]
60_GLY VAL ClinVar
chr12:112888163
rs397507509 Pathogenic Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; not provided [MedGen:CN517202]
60_GLY ARG ClinVar
chr12:112888162
rs397507507 Pathogenic not provided [MedGen:CN517202]
61_ASP GLY ClinVar
chr12:112888166
rs121918461 Pathogenic Abnormality of cardiovascular system morphology [Human Phenotype Ontology:HP:0030680,MedGen:C4049796]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Short stature [Human Phenotype Ontology:HP:0004322,MedGen:C0349588]; not provided [MedGen:CN517202]
61_ASP HIS ClinVar
chr12:112888165
rs397507510 Pathogenic Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; not provided [MedGen:CN517202]
61_ASP ASN ClinVar
chr12:112888165
rs397507510 Pathogenic LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
61_ASP ALA ClinVar
chr12:112888166
rs121918461 Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]
61_ASP TYR ClinVar
chr12:112888165
rs397507510 Pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]
62_TYR ASP ClinVar
chr12:112888168
rs121918460 Pathogenic Dysplastic pulmonary valve [Human Phenotype Ontology:HP:0005164,MedGen:C1866206]; Failure to thrive [Human Phenotype Ontology:HP:0001508,MedGen:C2315100]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Patent ductus arteriosus [Human Phenotype Ontology:HP:0001643,MedGen:C0013274,Orphanet:ORPHA706,SNOMED CT:83330001]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Right ventricular hypertrophy [Human Phenotype Ontology:HP:0001667,MedGen:C0162770]; Secundum atrial septal defect [Human Phenotype Ontology:HP:0001684,MedGen:C0344724,Orphanet:ORPHA99103]; Tricuspid regurgitation [Human Phenotype Ontology:HP:0005180,MedGen:C0040961]; not provided [MedGen:CN517202]
63_TYR CYS ClinVar
chr12:112888172
rs121918459 Pathogenic B lymphoblastic leukemia lymphoma, no ICD-O subtype [MedGen:C3472624]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Lymphoma [Human Phenotype Ontology:HP:0002665,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735]; Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
69_GLU GLN ClinVar
chr12:112888189
rs397507511 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
69_GLU LYS ClinVar
chr12:112888189
rs397507511 Likely pathogenic not provided [MedGen:CN517202]
70_LYS ARG ClinVar
chr12:112888193
rs397516801 Pathogenic/Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
71_PHE LEU ClinVar
chr12:112888195
rs397507512 Pathogenic/Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
71_PHE VAL ClinVar
chr12:112888195
rs397507512 Pathogenic not provided [MedGen:CN517202]
71_PHE LEU ClinVar
chr12:112888197
rs1555267558 Likely pathogenic Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
72_ALA SER ClinVar
chr12:112888198
rs121918453 Pathogenic LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
72_ALA GLY ClinVar
chr12:112888199
rs121918454 Pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
72_ALA PRO ClinVar
chr12:112888198
rs121918453 Pathogenic/Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; not provided [MedGen:CN517202]
72_ALA THR ClinVar
chr12:112888198
rs121918453 Pathogenic/Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neuroblastoma [Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C2749484,OMIM:256700,Orphanet:ORPHA635]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
72_ALA ASP ClinVar
chr12:112888199
rs121918454 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neuroblastoma [Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C2749484,OMIM:256700,Orphanet:ORPHA635]
73_THR ILE ClinVar
chr12:112888202
rs121918462 Pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
73_THR PRO ClinVar
chr12:112888201
rs397507513 Pathogenic not provided [MedGen:CN517202]
76_GLU LYS ClinVar
chr12:112888210
rs121918464 Pathogenic Astrocytoma [Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neuroblastoma [Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C2749484,OMIM:256700,Orphanet:ORPHA635]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; not provided [MedGen:CN517202]
76_GLU VAL ClinVar
chr12:112888211
rs121918465 Pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]
76_GLU GLY ClinVar
chr12:112888211
rs121918465 Pathogenic Astrocytoma [Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neuroblastoma [Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C2749484,OMIM:256700,Orphanet:ORPHA635]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; not provided [MedGen:CN517202]
76_GLU ALA ClinVar
chr12:112888211
rs121918465 Pathogenic Astrocytoma [Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neuroblastoma [Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C2749484,OMIM:256700,Orphanet:ORPHA635]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; not provided [MedGen:CN517202]
76_GLU ASP ClinVar
chr12:112888212
rs397507514 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
76_GLU ASP ClinVar
chr12:112888212
rs397507514 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
76_GLU GLN ClinVar
chr12:112888210
rs121918464 Pathogenic not provided [MedGen:CN517202]
79_GLN ARG ClinVar
chr12:112888220
rs121918466 Pathogenic Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; LEOPARD syndrome 1 [MedGen:C4551484,OMIM:151100]; Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
79_GLN LYS ClinVar
chr12:112888219
rs397516803 Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]
99_LYS TER ClinVar
chr12:112888279
rs387907158 Pathogenic Metachondromatosis [MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009]