Results for the protein: Q9UL12

Results for the Protein: Q9UL12

52000845

1757

SARDH

NCBI, UniProt

SARDH_HUMAN RecName: Full=Sarcosine dehydrogenase, mitochondrial; Short=SarDH; AltName: Full=BPR-2; Flags: Precursor

Known Diseases associated with this Protein:
SARCOSINEMIA
SARCOSINEMIA (SARCOS)

6

4

4

2

4

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: GlpA - COG0578 DadA - COG0665 COG0579 - COG0579 DAO - pfam01266 GcvT - COG0404 GCV_T - pfam01571 GCV_T_C - pfam08669	Swiss-Prot Protein: Q9UL12 Identical to: NP_001128179, NP_009032 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DadA	COG0665	1.8e-79	63	455
COG0579	COG0579	0.00021	64	453
GcvT	COG0404	9.3e-99	479	916
DAO	pfam01266	1.4e-87	68	427
GCV_T	pfam01571	4e-73	570	798
GCV_T_C	pfam08669	5.6e-17	805	904

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2073817	Polymorphism	p.ARG614HIS	N/A
Swiss-Prot	VAR_039078	Polymorphism	p.GLU372ASP	N/A
Swiss-Prot	VAR_039077	Polymorphism	p.GLY22CYS	N/A
dbSNP	rs886016	Polymorphism	p.MET648VAL	N/A
Swiss-Prot	VAR_069273	Disease	p.PRO287LEU	Sarcosinemia (SARCOS)
Swiss-Prot	VAR_069272	Disease	p.VAL71PHE	Sarcosinemia (SARCOS)
OMIM	604455.0004	Disease	p.ARG514TER	SARCOSINEMIA
OMIM	604455.0003	Disease	p.ARG723TER	SARCOSINEMIA
OMIM	604455.0002	Disease	p.PRO287LEU	SARCOSINEMIA
OMIM	604455.0001	Disease	p.VAL71PHE	SARCOSINEMIA

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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