Results for the protein: Q96RP9

Results for the Protein: Q96RP9

116241346

85476

GFM1

NCBI, UniProt

EFGM_HUMAN RecName: Full=Elongation factor G, mitochondrial; Short=EF-Gmt; AltName: Full=Elongation factor G 1, mitochondrial; Short=mEF-G 1; AltName: Full=Elongation factor G1; Short=hEFG1; Flags: Precursor

Known Diseases associated with this Protein:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (COXPD1)

6

2

4

2

2

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Swiss-Prot Protein: Q96RP9

Identical to: NP_079272

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LepA	COG0481	9e-08	38	599
TypA	COG1217	1.5e-12	42	672
TypA_BipA	cd01891	1e-26	45	239
RF3	cd04169	5.5e-22	45	320
EF2	cd01885	1.8e-18	47	320
LepA	cd01890	2.3e-31	47	221
Snu114p	cd04167	1.7e-08	47	320
GTP_translation_fact	cd00881	1.8e-71	48	320
EF1_alpha	cd01883	4.1e-06	48	225
EF_Tu	cd01884	5.1e-06	48	228
EF-G	cd01886	1.9e-199	48	320
SelB_euk	cd01889	0.00027	48	225
CysN_ATPS	cd04166	6.1e-06	48	240
TetM_like	cd04168	4.8e-73	48	320
EF-G_bact	cd04170	1.7e-75	48	320
IF2_eIF5B	cd01887	1.1e-05	54	225
Tet_II	cd03690	0.00046	350	433
Translation_Factor_I	cd01342	5.4e-16	353	433
eEF2_snRNP_like_II	cd03700	0.0008	353	433
EFG_mtEFG_II	cd04088	3.5e-39	353	433
mtEFG1_II_like	cd04091	1.1e-60	353	433
mtEFG2_II_like	cd04092	1.2e-16	353	433
lepA_II	cd03699	0.00014	368	433
BipA_TypA_II	cd03691	0.00019	369	433
mtEFG2_like_IV	cd01693	9e-05	523	642
EFG_mtEFG1_IV	cd01434	1.3e-65	525	642
EFG_like_IV	cd01680	2.7e-07	525	642
Elongation_Factor_C	cd01514	4.1e-31	647	724
BipA_TypA_C	cd03710	0.00059	647	724
Tet_C	cd03711	5.4e-07	647	724
EFG_mtEFG_C	cd03713	6.7e-39	647	724
eEF2_snRNP_like_C	cd04096	5.3e-06	647	725
mtEFG1_C	cd04097	5.8e-60	647	724
TEF1	COG5256	0.00021	37	380
PrfC	COG4108	6.9e-20	41	588
GTP_EFTU	pfam00009	2.4e-119	44	319
GTP_EFTU_D2	pfam03144	1.5e-17	366	432
EFG_IV	pfam03764	2.9e-51	521	642
EFG_C	pfam00679	3.9e-33	644	731
EFG_C	smart00838	3.3e-30	645	729

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34297061	Polymorphism	p.ASN159SER	N/A
Swiss-Prot	VAR_021512	Disease	p.ASN174SER	Combined oxidative phosphorylation deficiency 1 (COXPD1)
Swiss-Prot	VAR_031901	Disease	p.MET496ARG	Combined oxidative phosphorylation deficiency 1 (COXPD1)
dbSNP	rs2303909	Polymorphism	p.VAL215ILE	N/A
OMIM	606639.0002	Disease	p.ARG47TER	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM	606639.0004	Disease	p.ARG250TRP	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM	606639.0001	Disease	p.ASN174SER	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM	606639.0003	Disease	p.MET496ARG	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1

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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