Results for the protein: Q5JPH6

Results for the Protein: Q5JPH6

117949790

124454

EARS2

NCBI, UniProt

SYEM_HUMAN RecName: Full=Probable glutamate--tRNA ligase, mitochondrial; AltName: Full=Glutamyl-tRNA synthetase; Short=GluRS; Flags: Precursor

Known Diseases associated with this Protein:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (COXPD12)

18

1

6

1

12

Tips:

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Default View: GlnS - COG0008 tRNA-synt_1c - pfam00749 GluRS_core - cd00808 GlnRS_core - cd00807 GlxRS_core - cd00418 class_I_aaRS_core - cd00802	Swiss-Prot Protein: Q5JPH6 Identical to: NP_001077083 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GlxRS_core	cd00418	2.5e-99	36	361
GlnRS_core	cd00807	1.6e-15	36	325
GluRS_core	cd00808	9.2e-201	36	361
class_I_aaRS_core	cd00802	9.9e-05	38	289
tRNA-synt_1c	pfam00749	7.9e-119	36	353

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069247	Disease	p.ARG516GLN	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069242	Disease	p.ARG168GLY	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069238	Disease	p.ARG107HIS	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069235	Disease	p.ARG55HIS	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069239	Disease	p.ARG108TRP	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069241	Disease	p.CYS167TYR	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069237	Disease	p.GLU96LYS	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069245	Disease	p.GLY317CYS	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069240	Disease	p.GLY110SER	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069243	Disease	p.GLY204SER	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069244	Disease	p.GLY224SER	Combined oxidative phosphorylation deficiency 12 (COXPD12)
Swiss-Prot	VAR_069236	Disease	p.LYS65GLU	Combined oxidative phosphorylation deficiency 12 (COXPD12)
dbSNP	rs6497671	Polymorphism	p.SER457GLY	N/A
OMIM	612799.0001	Disease	p.ARG108TRP	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
OMIM	612799.0006	Disease	p.CYS167TYR	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
OMIM	612799.0005	Disease	p.GLU96LYS	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
OMIM	612799.0003	Disease	p.GLY110SER	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
OMIM	612799.0004	Disease	p.GLY204SER	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
OMIM	612799.0007	Disease	p.LYS65GLU	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

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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