Results for the protein: Q15031

Results for the Protein: Q15031

2501029

23395

LARS2

NCBI, UniProt

SYLM_HUMAN RecName: Full=Probable leucine--tRNA ligase, mitochondrial; AltName: Full=Leucyl-tRNA synthetase; Short=LeuRS; Flags: Precursor

Known Diseases associated with this Protein:
PERRAULT SYNDROME 4
PERRAULT SYNDROME 4 (PRLTS4)

4

2

2

2

2

Tips:

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Default View: IleS - COG0060 ValS - COG0525 LeuS - COG0495 tRNA-synt_1 - pfam00133 MetG - COG0143 IleRS_core - cd00818 ValRS_core - cd00817 MetRS_core - cd00814 Ile_Leu_Val_MetRS_co - cd00668 LeuRS_core - cd00812 tRNA-synt_1g - pfam09334 Anticodon_Ia_Leu_BEm - cd07958 Anticodon_1 - pfam08264	Swiss-Prot Protein: Q15031 Identical to: NP_056155 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LeuS	COG0495	1.9e-228	53	901
ValS	COG0525	2.3e-13	53	899
MetG	COG0143	1e-07	78	531
ValRS_core	cd00817	2.5e-16	82	678
IleRS_core	cd00818	1.9e-08	82	678
Ile_Leu_Val_MetRS_co	cd00668	5e-13	83	678
LeuRS_core	cd00812		83	678
MetRS_core	cd00814	2.1e-10	83	343
Anticodon_Ia_Leu_BEm	cd07958	8.2e-26	680	803
tRNA-synt_1	pfam00133	6.2e-13	58	679
tRNA-synt_1g	pfam09334	2e-09	84	370
Anticodon_1	pfam08264	4.1e-14	725	870

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9827689	Polymorphism	p.GLU831ASP	N/A
dbSNP	rs36054230	Polymorphism	p.LYS727ASN	N/A
Swiss-Prot	VAR_070094	Disease	p.THR522ASN	Perrault syndrome 4 (PRLTS4)
Swiss-Prot	VAR_070095	Disease	p.THR629MET	Perrault syndrome 4 (PRLTS4)
OMIM	604544.0001	Disease	p.THR522ASN	PERRAULT SYNDROME 4
OMIM	604544.0002	Disease	p.THR629MET	PERRAULT SYNDROME 4

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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