Results for the protein: Q5ST30

Results for the Protein: Q5ST30

296452917

57176

VARS2

NCBI, UniProt

SYVM_HUMAN RecName: Full=Valine--tRNA ligase, mitochondrial; AltName: Full=Valyl-tRNA synthetase; Short=ValRS; AltName: Full=Valyl-tRNA synthetase-like; Flags: Precursor

			0 8 0 7 1

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Default View: IleS - COG0060 ValS - COG0525 LeuS - COG0495 tRNA-synt_1 - pfam00133 ValRS_core - cd00817 Ile_Leu_Val_MetRS_co - cd00668 IleRS_core - cd00818 LeuRS_core - cd00812 Anticodon_Ia_Ile_BEm - cd07960 Anticodon_Ia_Val - cd07962 Anticodon_Ia_Ile_ABE - cd07961 Anticodon_1 - pfam08264	Swiss-Prot Protein: Q5ST30 Identical to: NP_065175 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LeuS	COG0495	0.00031	100	957
ValS	COG0525		100	1050
ValRS_core	cd00817		137	734
Ile_Leu_Val_MetRS_co	cd00668	1.2e-79	138	708
IleRS_core	cd00818	3.3e-11	145	697
LeuRS_core	cd00812	6.1e-10	150	683
Anticodon_Ia_Ile_BEm	cd07960	1.2e-08	734	914
Anticodon_Ia_Ile_ABE	cd07961	9.1e-09	734	914
Anticodon_Ia_Val	cd07962	6.1e-54	734	868
tRNA-synt_1	pfam00133	6.1e-237	112	735
Anticodon_1	pfam08264	8.6e-39	779	931

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2252863	Polymorphism	p.ALA965THR	N/A
dbSNP	rs4678	Polymorphism	p.ARG1049GLN	N/A
dbSNP	rs9394021	Polymorphism	p.ARG917GLN	N/A
dbSNP	rs6926723	Polymorphism	p.GLY64ARG	N/A
dbSNP	rs6926224	Polymorphism	p.HIS26TYR	N/A
dbSNP	rs2249464	Polymorphism	p.TRP449ARG	N/A
dbSNP	rs2074506	Polymorphism	p.VAL680LEU	N/A
Swiss-Prot	VAR_061910	Polymorphism	p.VAL765MET	N/A

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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