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Results for the Protein: Q13253
15214099
NOG

NOGG_HUMAN RecName: Full=Noggin; Flags: Precursor

Known Diseases associated with this Protein:
  BRACHYDACTYLY B2 (BDB2)
  BRACHYDACTYLY, TYPE B2
  BRACHYDACTYLY, TYPE B2, INCLUDED;;
  MULTIPLE SYNOSTOSES SYNDROME 1
  MULTIPLE SYNOSTOSES SYNDROME 1 (SYNS1)
  STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
  STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, INCLUDED
  SYMPHALANGISM, PROXIMAL 1A (SYM1A)
  SYMPHALANGISM, PROXIMAL, 1A
  SYMPHALANGISM, PROXIMAL, 1A, INCLUDED
  TARSAL-CARPAL COALITION SYNDROME
  TARSAL-CARPAL COALITION SYNDROME (TCC)
33
0
16
0
17
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Noggin - pfam05806


Swiss-Prot Protein: Q13253
Identical to: NP_005441
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Nogginpfam058061.2e-1367232

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036998Diseasep.ALA36PROBrachydactyly B2 (BDB2)
Swiss-ProtVAR_037000Diseasep.ARG167GLYBrachydactyly B2 (BDB2)
Swiss-ProtVAR_018326Diseasep.ARG204LEUTarsal-carpal coalition syndrome (TCC)
Swiss-ProtVAR_064541Diseasep.CYS232TRPMultiple synostoses syndrome 1 (SYNS1)
Swiss-ProtVAR_018325Diseasep.CYS184TYRSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_036999Diseasep.GLU48LYSBrachydactyly B2 (BDB2)
Swiss-ProtVAR_011362Diseasep.GLY189CYSSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_011364Diseasep.ILE220ASNSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_036997Diseasep.PRO35ALABrachydactyly B2 (BDB2)
Swiss-ProtVAR_011361Diseasep.PRO35ARGTarsal-carpal coalition syndrome (TCC)
Swiss-ProtVAR_011367Diseasep.PRO223LEUSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_037001Diseasep.PRO187SERBrachydactyly B2 (BDB2)
Swiss-ProtVAR_018324Diseasep.PRO35SERSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_037605Diseasep.TRP205CYSSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_011363Diseasep.TRP217GLYMultiple synostoses syndrome 1 (SYNS1)
Swiss-ProtVAR_011366Diseasep.TYR222ASPSymphalangism, proximal 1A (SYM1A)
Swiss-ProtVAR_011365Diseasep.TYR222CYSTarsal-carpal coalition syndrome (TCC)
OMIM602991.0018 Diseasep.ARG167GLYBRACHYDACTYLY, TYPE B2
OMIM602991.0006 Diseasep.ARG204LEUTARSAL-CARPAL COALITION SYNDROME
OMIM602991.0019 Diseasep.CYS232TRPMULTIPLE SYNOSTOSES SYNDROME 1
OMIM602991.0009 Diseasep.CYS184TYRSYMPHALANGISM, PROXIMAL, 1A
OMIM602991.0013 Diseasep.GLN110TERSTAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
OMIM602991.0005 Diseasep.GLY189CYSSYMPHALANGISM, PROXIMAL, 1A
OMIM602991.0010 Diseasep.LEU129TERSYMPHALANGISM, PROXIMAL, 1A
OMIM602991.0017 Diseasep.PRO35ALABRACHYDACTYLY, TYPE B2
OMIM602991.0007 Diseasep.PRO35ARGTARSAL-CARPAL COALITION SYNDROME||SYMPHALANGISM, PROXIMAL, 1A, INCLUDED
OMIM602991.0004 Diseasep.PRO223LEUSYMPHALANGISM, PROXIMAL, 1A
OMIM602991.0012 Diseasep.PRO35SERSYMPHALANGISM, PROXIMAL, 1A||BRACHYDACTYLY, TYPE B2, INCLUDED;;||STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, INCLUDED
OMIM602991.0016 Diseasep.TRP205CYSMULTIPLE SYNOSTOSES SYNDROME 1
OMIM602991.0003 Diseasep.TRP217GLYMULTIPLE SYNOSTOSES SYNDROME 1
OMIM602991.0015 Diseasep.TRP205TERMULTIPLE SYNOSTOSES SYNDROME 1
OMIM602991.0002 Diseasep.TYR222ASPSYMPHALANGISM, PROXIMAL, 1A
OMIM602991.0001 602991.0008 Diseasep.TYR222CYSTARSAL-CARPAL COALITION SYNDROME||SYMPHALANGISM, PROXIMAL, 1A, INCLUDED



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