Results for the protein: P56192

Results for the Protein: P56192

20178332

4141

MARS

NCBI, UniProt

SYMC_HUMAN RecName: Full=Methionine--tRNA ligase, cytoplasmic; AltName: Full=Methionyl-tRNA synthetase; Short=MetRS

Known Diseases associated with this Protein:
INFANTILE LIVER FAILURE SYNDROME 2 (1 FAMILY)

2

1

2

0

1

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Swiss-Prot Protein: P56192

Identical to: NP_004981

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Gst	COG0625	3.4e-07	1	196
	cd03179	0.00011	75	177
GST_C_Phi	cd03187	0.0006	76	186
GST_C_Ure2p_like	cd03178	7e-06	80	187
GST_C_EF1Bgamma_like	cd03181	3.9e-05	80	189
GST_C_family	cd00299	1.2e-15	81	176
GST_C_2	cd03180	6e-06	83	182
MetG	COG0143	3.9e-244	261	819
Ile_Leu_Val_MetRS_co	cd00668	4.7e-12	265	633
MetRS_core	cd00814	4.2e-226	265	633
LeuRS_core	cd00812	1.7e-07	265	635
Anticodon_Ia_Met	cd07957	6.4e-53	642	771
HisRS_RNA	cd00938	4.2e-09	843	887
WEPRS_RNA	cd00936	1.3e-10	845	894
MetRS_RNA	cd00939	4.2e-23	845	889
S15_NS1_EPRS_RNA-bin	cd00677	1.3e-05	846	884
WHEPGMRS_RNA	cd01200	7.3e-16	846	887
GST_C	pfam00043	0.00014	92	180
WHEP-TRS	pfam00458	8.1e-18	845	900
tRNA-synt_1g	pfam09334	2.5e-197	266	658

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_020459	Polymorphism	p.ALA683ASP	N/A
OMIM	156560.0002	Disease	p.ILE523THR	INFANTILE LIVER FAILURE SYNDROME 2 (1 family)
OMIM	156560.0001	Disease	p.PHE370LEU	INFANTILE LIVER FAILURE SYNDROME 2 (1 family)

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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