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Results for the Protein: Q96RP9
116241346

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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Default View:

FusA - COG0480
TEF1 - COG5256
LepA - COG0481
PrfC - COG4108
TypA - COG1217
GTP_EFTU - pfam00009
TypA_BipA - cd01891
RF3 - cd04169
LepA - cd01890
EF2 - cd01885
Snu114p - cd04167
EF-G_bact - cd04170
TetM_like - cd04168
EF_Tu - cd01884
EF-G - cd01886
CysN_ATPS - cd04166
EF1_alpha - cd01883
SelB_euk - cd01889
GTP_translation_fact - cd00881
IF2_eIF5B - cd01887
Tet_II - cd03690
mtEFG2_II_like - cd04092
EFG_mtEFG_II - cd04088
Translation_Factor_I - cd01342
mtEFG1_II_like - cd04091
eEF2_snRNP_like_II - cd03700
GTP_EFTU_D2 - pfam03144
lepA_II - cd03699
BipA_TypA_II - cd03691
EFG_IV - pfam03764
mtEFG2_like_IV - cd01693
EFG_mtEFG1_IV - cd01434
EFG_like_IV - cd01680
EFG_C - pfam00679
EFG_C - smart00838
EFG_mtEFG_C - cd03713
Elongation_Factor_C - cd01514
BipA_TypA_C - cd03710
Tet_C - cd03711
eEF2_snRNP_like_C - cd04096
mtEFG1_C - cd04097


Swiss-Prot Protein: Q96RP9
Identical to: NP_079272
   Default View:






















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FusACOG048037741
LepACOG04819e-0838599
TypACOG12171.5e-1242672
TypA_BipAcd018911e-2645239
RF3cd041695.5e-2245320
EF2cd018851.8e-1847320
LepAcd018902.3e-3147221
Snu114pcd041671.7e-0847320
GTP_translation_factcd008811.8e-7148320
EF1_alphacd018834.1e-0648225
EF_Tucd018845.1e-0648228
EF-Gcd018861.9e-19948320
SelB_eukcd018890.0002748225
CysN_ATPScd041666.1e-0648240
TetM_likecd041684.8e-7348320
EF-G_bactcd041701.7e-7548320
IF2_eIF5Bcd018871.1e-0554225
Tet_IIcd036900.00046350433
Translation_Factor_Icd013425.4e-16353433
eEF2_snRNP_like_IIcd037000.0008353433
EFG_mtEFG_IIcd040883.5e-39353433
mtEFG1_II_likecd040911.1e-60353433
mtEFG2_II_likecd040921.2e-16353433
lepA_IIcd036990.00014368433
BipA_TypA_IIcd036910.00019369433
mtEFG2_like_IVcd016939e-05523642
EFG_mtEFG1_IVcd014341.3e-65525642
EFG_like_IVcd016802.7e-07525642
Elongation_Factor_Ccd015144.1e-31647724
BipA_TypA_Ccd037100.00059647724
Tet_Ccd037115.4e-07647724
EFG_mtEFG_Ccd037136.7e-39647724
eEF2_snRNP_like_Ccd040965.3e-06647725
mtEFG1_Ccd040975.8e-60647724
TEF1COG52560.0002137380
PrfCCOG41086.9e-2041588
GTP_EFTUpfam000092.4e-11944319
GTP_EFTU_D2pfam031441.5e-17366432
EFG_IVpfam037642.9e-51521642
EFG_Cpfam006793.9e-33644731
EFG_Csmart008383.3e-30645729

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34297061 Polymorphismp.ASN159SERN/A
Swiss-ProtVAR_021512Diseasep.ASN174SERCombined oxidative phosphorylation deficiency 1 (COXPD1)
Swiss-ProtVAR_031901Diseasep.MET496ARGCombined oxidative phosphorylation deficiency 1 (COXPD1)
dbSNPrs2303909 Polymorphismp.VAL215ILEN/A
OMIM606639.0002 Diseasep.ARG47TERCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM606639.0004 Diseasep.ARG250TRPCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM606639.0001 Diseasep.ASN174SERCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
OMIM606639.0003 Diseasep.MET496ARGCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1



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