Results for the protein: Q96L58

Results for the Protein: Q96L58

61211870

126792

B3GALT6

NCBI, UniProt

B3GT6_HUMAN RecName: Full=Beta-1,3-galactosyltransferase 6; Short=Beta-1,3-GalTase 6; Short=Beta3Gal-T6; Short=Beta3GalT6; AltName: Full=GAG GalTII; AltName: Full=Galactosyltransferase II; AltName: Full=Galactosylxylosylprotein 3-beta-galactosyltransferase; AltName: Full=UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
  EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (EDSP2)
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, 1, WITH OR WITHOUT FRACTURES (SEMDJL1)
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES

18

1

9

0

10

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Default View:	Swiss-Prot Protein: Q96L58 Identical to: NP_542172 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070139	Disease	p.ARG232CYS	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070132	Disease	p.ARG6TRP	Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)
Swiss-Prot	VAR_070136	Disease	p.ASP156ASN	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070137	Disease	p.ASP207HIS	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070140	Disease	p.CYS300SER	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_059317	Polymorphism	p.GLU174ASP	N/A
Swiss-Prot	VAR_070138	Disease	p.GLY217SER	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070134	Disease	p.PRO67LEU	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070133	Disease	p.SER65GLY	Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)
Swiss-Prot	VAR_070141	Disease	p.SER309THR	Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)
OMIM	615291.0002	Disease	p.ARG232CYS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
OMIM	615291.0010	Disease	p.ARG6TRP	EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
OMIM	615291.0003	Disease	p.ASP156ASN	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
OMIM	615291.0012	Disease	p.ASP207HIS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
OMIM	615291.0004	Disease	p.CYS300SER	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
OMIM	615291.0013	Disease	p.GLY217SER	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
OMIM	615291.0006	Disease	p.PRO67LEU	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
OMIM	615291.0005	Disease	p.SER65GLY	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
OMIM	615291.0008	Disease	p.SER309THR	EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2

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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