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Results for the Protein: P22607
120050

FGFR3_HUMAN RecName: Full=Fibroblast growth factor receptor 3; Short=FGFR-3; AltName: CD_antigen=CD333; Flags: Precursor

Known Diseases associated with this Protein:
  ACHONDROPLASIA
  ACHONDROPLASIA (ACH)
  BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED
  BLADDER CANCER, SOMATIC, INCLUDED
  BLADDER CANCER, SOMATIC, INCLUDED;;
  CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME (CATSHL SYNDROME)
  CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
  CERVICAL CANCER, SOMATIC, INCLUDED;;
  CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
  CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CAN)
  HYPOCHONDROPLASIA
  HYPOCHONDROPLASIA (HCH)
  HYPOCHONDROPLASIA, INCLUDED
  KERATINOCYTIC NON-EPIDERMOLYTIC NEVUS (KNEN)
  KERATOSIS, S
  LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME (LADDS)
  LADD SYNDROME
  MUENKE SYNDROME
  MUENKE SYNDROME (MNKS)
  MULTIPLE MYELOMA, SOMATIC, INCLUDED;;
  NEVUS, EPIDERMAL, SOMATIC, INCLUDED
  SADDAN DYSPLASIA
  SAETHRE-CHOTZEN SYNDROME, INCLUDED;;
  SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, IN
  SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
  THANATOPHORIC DYSPLASIA 1 (TD1)
  THANATOPHORIC DYSPLASIA 2 (TD2)
  THANATOPHORIC DYSPLASIA, TYPE I
  THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
  THANATOPHORIC DYSPLASIA, TYPE II
45
10
27
0
28
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

IG_like - smart00410
IG - smart00409
IGc2 - smart00408
I-set - pfam07679
V-set - pfam07686
TyrKc - smart00219
STYKc - smart00221
Pkinase_Tyr - pfam07714
S_TKc - smart00220
KIND - smart00750


Swiss-Prot Protein: P22607
Identical to: NP_000133
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IG_likesmart004102.6e-0546126
IGc2smart004088.3e-0553116
I-setpfam076791.3e-12157245
IGsmart004092.8e-15161246
IG_likesmart004102.8e-15161246
IGc2smart004081.9e-17168235
I-setpfam076795.8e-06257356
IGsmart004091.1e-16260357
IG_likesmart004101.1e-16260357
V-setpfam076860.00031262356
IGc2smart004082.6e-06267346
Pkinase_Tyrpfam077146.1e-161472748
STYKcsmart002211.6e-60472750
TyrKcsmart002192e-160472748
S_TKcsmart002203.5e-53482752
KINDsmart007500.00013589759

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004156Diseasep.ALA391GLUCrouzon syndrome with acanthosis nigricans (CAN)
Swiss-ProtVAR_022169Polymorphismp.ALA441THRN/A
Swiss-ProtVAR_022170Polymorphismp.ALA717THRN/A
Swiss-ProtVAR_004148Diseasep.ARG248CYSThanatophoric dysplasia 1 (TD1)
Swiss-ProtVAR_029108Diseasep.ARG621HISCamptodactyly tall stature and hearing loss syndrome (CATSHL syndrome)
Swiss-ProtVAR_004158Diseasep.ASN540LYSHypochondroplasia (HCH)
Swiss-ProtVAR_018389Diseasep.ASN540SERHypochondroplasia (HCH)
Swiss-ProtVAR_004159Diseasep.ASN540THRHypochondroplasia (HCH)
Swiss-ProtVAR_029887Diseasep.ASP513ASNLacrimo-auriculo-dento-digital syndrome (LADDS)
Swiss-ProtVAR_042210Polymorphismp.ASP646ASNN/A
Swiss-ProtVAR_042208Polymorphismp.CYS228ARGN/A
Swiss-ProtVAR_018388Polymorphismp.GLU322LYSN/A
Swiss-ProtVAR_004155Diseasep.GLY380ARGKeratinocytic non-epidermolytic nevus (KNEN)
Swiss-ProtVAR_022167Polymorphismp.GLY65ARGN/A
Swiss-ProtVAR_004151Diseasep.GLY370CYSThanatophoric dysplasia 1 (TD1)
Swiss-ProtVAR_004154Diseasep.GLY375CYSAchondroplasia (ACH)
Swiss-ProtVAR_022171Polymorphismp.ILE726PHEN/A
Swiss-ProtVAR_004157Diseasep.ILE538VALHypochondroplasia (HCH)
Swiss-ProtVAR_018390Diseasep.LYS650GLNHypochondroplasia (HCH)
Swiss-ProtVAR_004160Diseasep.LYS650GLUThanatophoric dysplasia 2 (TD2)
Swiss-ProtVAR_004161Diseasep.LYS650METThanatophoric dysplasia 1 (TD1)
Swiss-ProtVAR_022168Polymorphismp.PHE384LEUN/A
Swiss-ProtVAR_004150Diseasep.PRO250ARGMuenke syndrome (MNKS)
Swiss-ProtVAR_004149Diseasep.SER249CYSThanatophoric dysplasia 1 (TD1)
Swiss-ProtVAR_004152Diseasep.SER371CYSThanatophoric dysplasia 1 (TD1)
Swiss-ProtVAR_042209Polymorphismp.THR338METN/A
Swiss-ProtVAR_042207Polymorphismp.THR79SERN/A
Swiss-ProtVAR_004153Diseasep.TYR373CYSThanatophoric dysplasia 1 (TD1)
OMIM134934.0011 Diseasep.ALA389GLUCROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
OMIM134934.0005 Diseasep.ARG248CYSTHANATOPHORIC DYSPLASIA, TYPE I||MULTIPLE MYELOMA, SOMATIC, INCLUDED;;||SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, IN
OMIM134934.0029 Diseasep.ARG619HISCAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
OMIM134934.0034 Diseasep.ASN538LYSTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0023 Diseasep.ASN538SERHYPOCHONDROPLASIA
OMIM134934.0018 Diseasep.ASN538THRHYPOCHONDROPLASIA
OMIM134934.0028 Diseasep.ASP511ASNLADD SYNDROME
OMIM134934.0034 Diseasep.GLN483ARGTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0027 Diseasep.GLY378ARGACHONDROPLASIA
OMIM134934.0033 Diseasep.GLY368CYSTHANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL, SOMATIC, INCLUDED
OMIM134934.0003 Diseasep.GLY373CYSACHONDROPLASIA
OMIM134934.0019 Diseasep.ILE536VALHYPOCHONDROPLASIA
OMIM134934.0027 Diseasep.LEU375ARGACHONDROPLASIA
OMIM134934.0022 Diseasep.LYS648GLNHYPOCHONDROPLASIA
OMIM134934.0024 Diseasep.LYS650GLNHYPOCHONDROPLASIA||BLADDER CANCER, SOMATIC, INCLUDED
OMIM134934.0004 Diseasep.LYS648GLUTHANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC, INCLUDED;;||SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
OMIM134934.0015 Diseasep.LYS648METSADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
OMIM134934.0014 Diseasep.PRO250ARGMUENKE SYNDROME||SAETHRE-CHOTZEN SYNDROME, INCLUDED;;||BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED
OMIM134934.0013 Diseasep.SER249CYSTHANATOPHORIC DYSPLASIA, TYPE I||CERVICAL CANCER, SOMATIC, INCLUDED;;||BLADDER CANCER, SOMATIC, INCLUDED;;||KERATOSIS, S
OMIM134934.0030 Diseasep.SER279CYSACHONDROPLASIA||HYPOCHONDROPLASIA, INCLUDED
OMIM134934.0006 Diseasep.SER369CYSTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0032 Diseasep.SER84LEUHYPOCHONDROPLASIA
OMIM134934.0008 Diseasep.TER805ARGTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0009 Diseasep.TER805CYSTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0007 Diseasep.TER805GLYTHANATOPHORIC DYSPLASIA, TYPE I
OMIM134934.0031 Diseasep.TYR278CYSHYPOCHONDROPLASIA
OMIM134934.0016 Diseasep.TYR371CYSTHANATOPHORIC DYSPLASIA, TYPE I



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