Results for the protein: Q86Y38

Results for the Protein: Q86Y38

71164803

64131

XYLT1

NCBI, UniProt

XYLT1_HUMAN RecName: Full=Xylosyltransferase 1; AltName: Full=Peptide O-xylosyltransferase 1; AltName: Full=Xylosyltransferase I; Short=XT-I; Short=XylT-I

Known Diseases associated with this Protein:
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

1

6

1

4

2

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Default View: Xylo_C - pfam12529	Swiss-Prot Protein: Q86Y38 Identical to: NP_071449 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 ↕
dbSNP	rs113276942	Polymorphism	p.ALA223GLY	N/A
dbSNP	rs35309694	Polymorphism	p.ARG892GLN	N/A
Swiss-Prot	VAR_049325	Polymorphism	p.PRO766ALA	N/A
Swiss-Prot	VAR_049324	Polymorphism	p.PRO325ARG	N/A
dbSNP	rs79030430	Polymorphism	p.THR665MET	N/A
dbSNP	rs7200466	Polymorphism	p.VAL839ILE	N/A
OMIM	608124.0001	Disease	p.ALA115SER	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

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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