Results for the protein: P12644

Results for the Protein: P12644

115073

652

BMP4

NCBI, UniProt

BMP4_HUMAN RecName: Full=Bone morphogenetic protein 4; Short=BMP-4; AltName: Full=Bone morphogenetic protein 2B; Short=BMP-2B; Flags: Precursor

Known Diseases associated with this Protein:
  MICROPHTHALMIA, SYNDROMIC 6
  MICROPHTHALMIA, SYNDROMIC 6, INCLUDED
  MICROPHTHALMIA, SYNDROMIC, 6 (MCOPS6)
  NON-SYNDROMIC OROFACIAL CLEFT 11 (OFC11)
  OROFACIAL CLEFT 11

11

8

6

1

12

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Default View: TGFb_propeptide - pfam00688 TGF_beta - pfam00019 TGFB - smart00204	Swiss-Prot Protein: P12644 Identical to: NP_001193, NP_570911, NP_570912 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TGF_beta	pfam00019	3.6e-64	305	408
TGFB	smart00204	3.8e-67	308	408

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058318	Disease	p.ALA346VAL	Non-syndromic orofacial cleft 11 (OFC11)
Swiss-Prot	VAR_058315	Disease	p.ARG162GLN	Non-syndromic orofacial cleft 11 (OFC11)
Swiss-Prot	VAR_058317	Disease	p.ARG287HIS	Non-syndromic orofacial cleft 11 (OFC11)
Swiss-Prot	VAR_043536	Polymorphism	p.ARG226TRP	N/A
Swiss-Prot	VAR_043534	Polymorphism	p.ASN150LYS	N/A
Swiss-Prot	VAR_043532	Disease	p.GLU93GLY	Microphthalmia, syndromic, 6 (MCOPS6)
Swiss-Prot	VAR_058316	Polymorphism	p.GLY168ALA	N/A
Swiss-Prot	VAR_043531	Disease	p.SER91CYS	Non-syndromic orofacial cleft 11 (OFC11)
Swiss-Prot	VAR_043537	Polymorphism	p.SER367THR	N/A
Swiss-Prot	VAR_058314	Polymorphism	p.THR102ALA	N/A
Swiss-Prot	VAR_043535	Polymorphism	p.THR225ALA	N/A
Swiss-Prot	VAR_043533	Polymorphism	p.THR116SER	N/A
dbSNP	rs17563	Polymorphism	p.VAL152ALA	N/A
OMIM	112262.0003	Disease	p.ALA346VAL	OROFACIAL CLEFT 11
OMIM	112262.0005	Disease	p.ARG287HIS	OROFACIAL CLEFT 11
OMIM	112262.0007	Disease	p.ARG198TER	OROFACIAL CLEFT 11\|\|MICROPHTHALMIA, SYNDROMIC 6, INCLUDED
OMIM	112262.0002	Disease	p.GLU93GLY	MICROPHTHALMIA, SYNDROMIC 6
OMIM	112262.0009	Disease	p.HIS121ARG	MICROPHTHALMIA, SYNDROMIC 6
OMIM	112262.0004	Disease	p.SER91CYS	OROFACIAL CLEFT 11

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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