Results for the protein: P51580

Results for the Protein: P51580

1730006

7172

TPMT

NCBI, UniProt

TPMT_HUMAN RecName: Full=Thiopurine S-methyltransferase; AltName: Full=Thiopurine methyltransferase

Known Diseases associated with this Protein:
THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
THIOPURINE S-METHYLTRANSFERASE DEFICIENCY (TPMT DEFICIENCY)

10

5

5

2

8

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Default View: TPMT - pfam05724	Swiss-Prot Protein: P51580 Identical to: NP_000358 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_005637	Disease	p.ALA80PRO	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
dbSNP	rs1800460	Polymorphism	p.ALA154THR	N/A
Swiss-Prot	VAR_005638	Disease	p.ALA154THR	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Swiss-Prot	VAR_008715	Disease	p.ARG215HIS	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Swiss-Prot	VAR_052368	Polymorphism	p.GLN179HIS	N/A
Swiss-Prot	VAR_005640	Disease	p.HIS227GLN	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Swiss-Prot	VAR_005636	Polymorphism	p.LEU49SER	N/A
dbSNP	rs1142345	Polymorphism	p.TYR240CYS	N/A
Swiss-Prot	VAR_005641	Disease	p.TYR240CYS	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Swiss-Prot	VAR_005639	Polymorphism	p.TYR180PHE	N/A
OMIM	187680.0007	Disease	p.ALA167GLY	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
OMIM	187680.0001	Disease	p.ALA80PRO	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
OMIM	187680.0002 187680.0004	Disease	p.ALA154THR	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
OMIM	187680.0006	Disease	p.ARG215HIS	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
OMIM	187680.0002 187680.0005	Disease	p.TYR240CYS	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY

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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