PDB ID 1DBH CHAIN A
Protein name PROTEIN (HUMAN SOS 1)
Uniprot Accession Q07889
The number of similar proteins 1
The number of binding states 1
The number of binding partners 0
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1DBH (CHAIN: A)
1 Monomeric state
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partners
  0
Sequence information
1   EQTYYDLVKA   FXAEIRQYIR   ELNLIIKVFR   EPFVSNSKLF   SANDVENIFS   50
51   RIVDIHELSV   KLLGHIEDTV   EXTDEGSPHP   LVGSCFEDLA   EELAFDPYES   100
101   YARDILRPGF   HDRFLSQLSK   PGAALYLQSI   GEGFKEAVQY   VLPRLLLAPV   150
151   YHCLHYFELL   KQLEEKSEDQ   EDKECLKQAI   TALLNVQSGX   EKICSKSLAK   200
201   RRLSESACRF   YSQQXKGKQL   AIKKXNEIQK   NIDGWEGKDI   GQCCNEFIXE   250
251   GTLTRVGAKH   ERHIFLFDGL   XICCKSNHGQ   PRLPGASNAE   YRLKEKFFXR   300
301   KVQINDKDDT   NEYKHAFEII   LKDENSVIFS   AKSAEEKNNW   XAALISLQYR   350
351   STLE           400
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
233_ASN TYR ClinVar
chr2:39281778
rs1057519963 Likely pathogenic Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]
252_ILE THR VAR_066035 rs142094234 Disease Noonan syndrome 4 (NS4) [MIM:610733]
266_THR LYS ClinVar
chr2:39278352
rs137852812 Pathogenic Gingival fibromatosis 1 [MedGen:C4551558,OMIM:135300]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 4 [MedGen:C1853120,OMIM:610733]; Noonan syndrome 4 [MedGen:C1853120,OMIM:610733]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
269_MET ARG ClinVar
chr2:39278343
rs137852813 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 4 [MedGen:C1853120,OMIM:610733]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
269_MET THR ClinVar
chr2:39278343
rs137852813 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 4 [MedGen:C1853120,OMIM:610733]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
309_ASP TYR ClinVar
chr2:39262581
rs397517180 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
337_TYR CYS VAR_030427 rs724160007 Disease Noonan syndrome 4 (NS4) [MIM:610733]
378_THR ALA ClinVar
chr2:39251221
rs397517146 Pathogenic/Likely pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
424_GLU LYS VAR_066038 rs730881041 Disease Noonan syndrome 4 (NS4) [MIM:610733]
426_GLN LYS ClinVar
chr2:39250293
- Likely pathogenic not provided [MedGen:CN517202]
432_TRP ARG ClinVar
chr2:39250275
rs267607080 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 4 [MedGen:C1853120,OMIM:610733]; not provided [MedGen:CN517202]
433_GLU LYS ClinVar
chr2:39250272
rs397517147 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
434_GLY ARG ClinVar
chr2:39250269
rs397517148 Pathogenic Abnormality of the sternum [Human Phenotype Ontology:HP:0000766,MedGen:C1860493]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Ptosis [Human Phenotype Ontology:HP:0000508,MedGen:C0005745]; Pulmonic stenosis [Human Phenotype Ontology:HP:0001642,MedGen:C1956257,OMIM:265500]; Short stature [Human Phenotype Ontology:HP:0004322,MedGen:C0349588]
434_GLY LYS VAR_066041 rs730881048 Disease Noonan syndrome 4 (NS4) [MIM:610733]
437_ILE THR ClinVar
chr2:39250259
rs397517150 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
437_ILE SER ClinVar
chr2:39250259
rs397517150 Pathogenic not provided [MedGen:CN517202]
439_GLN PRO ClinVar
chr2:39250253
rs1057517861 Likely pathogenic not provided [MedGen:CN517202]
441_CYS TYR ClinVar
chr2:39250247
rs727504295 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
462_PHE TYR ClinVar
chr2:39250184
rs730881043 Likely pathogenic not provided [MedGen:CN517202]
477_GLN ARG ClinVar
chr2:39250139
rs730881044 Pathogenic not provided [MedGen:CN517202]
478_PRO LEU VAR_066043 - Unclassified -
478_PRO ARG VAR_066044 - Disease Noonan syndrome 4 (NS4) [MIM:610733]
482_GLY ARG VAR_066045 rs1431574387 Disease Noonan syndrome 4 (NS4) [MIM:610733]
490_LEU ARG VAR_066046 - Disease Noonan syndrome 4 (NS4) [MIM:610733]
497_ARG GLN VAR_064506 rs371314838 Disease Noonan syndrome 4 (NS4) [MIM:610733]
548_SER ARG ClinVar
chr2:39249927
rs397517149 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
548_SER ARG ClinVar
chr2:39249925
rs730881045 Pathogenic not provided [MedGen:CN517202]
549_THR LYS VAR_066047 rs730881046 Disease Noonan syndrome 4 (NS4) [MIM:610733]
550_LEU PRO ClinVar
chr2:39249920
rs397517153 Pathogenic Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]