PDB ID 3CAF     CHAIN A
Protein name Fibroblast growth factor receptor 2
Uniprot Accession P21802
The number of similar proteins 7
The number of binding states 3
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3CAF (CHAIN: A)
1 Monomeric state
2 4WV1   4WV1  
3 P21802   P05230   P05230  

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Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   NKRAPYWTNT   EKMEKRLHAV   PAANTVKFRC   PAGGNPMPTM   RWLKNGKEFK   50
51   QEHRIGGYKV   RNQHWSLIME   SVVPSDKGNY   TCVVENEYGS   INHTYHLDVV   100

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
166_LEU SER ClinVar
chr8:38285566 		rs397515481
Pathogenic - Hartsfield-Bixler-Demyer syndrome [MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117]
168_ALA SER ClinVar
chr8:38285561 		rs121909630
Pathogenic - Hypogonadotropic hypogonadism 2 with anosmia [MedGen:C4016104]
172_ALA PHE VAR_017259 -
LP/P - Pfeiffer syndrome (PS) [MIM:101600]
173_LYS TER ClinVar
chr8:38285546 		-
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
178_ARG HIS 8.3kJPN
chr10:123310895 		rs141796960
- 0.0001 -
178_ARG CYS 8.3kJPN
chr10:123310896 		rs974173968
- 0.0001 -
179_CYS GLY ClinVar
chr8:38285528 		-
Likely pathogenic - Pfeiffer syndrome [MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710]; Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
186_MET THR VAR_017260 rs755793
LB/B - -
186_MET THR gnomAD
chr10:123310871 		rs755793
- 0.0454242 -
186_MET THR 8.3kJPN
chr10:123310871 		rs755793
- 0.0647 -
186_MET VAL 8.3kJPN
chr10:123310872 		rs55977237
- 0.0002 -
190_ARG GLN 8.3kJPN
chr10:123310859 		rs759750319
- 0.0001 -
190_ARG TRP 8.3kJPN
chr10:123310860 		rs147987917
- 0.0001 -
191_TRP TER ClinVar
chr8:38285490 		-
Pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
203_ARG CYS VAR_036380 -
US - Breast cancer samples
210_ARG CYS ClinVar
chr8:38283760 		rs1554564353
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia|FGFR1-related condition [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|]
211_TYR TER ClinVar
chr8:38283755 		-
Pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
211_TYR TER ClinVar
chr8:38283755 		-
Pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
225_ASP HIS ClinVar
chr8:38283715 		-
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
229_TYR ASP ClinVar
chr8:38283703 		-
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
238_GLY SER ClinVar
chr8:38283676 		rs121909635
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia|FGFR1-Related Disorders [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|]
238_GLY ASP ClinVar
chr8:38283675 		-
Pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
240_ILE THR ClinVar
chr8:38283669 		-
Likely pathogenic - Hypogonadotropic hypogonadism 2 with or without anosmia [MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.