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Results for the Protein: Q5JTZ9
74742244

SYAM_HUMAN RecName: Full=Alanine--tRNA ligase, mitochondrial; AltName: Full=Alanyl-tRNA synthetase; Short=AlaRS; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (COXPD8)
2
3
0
0
5
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Default View:

AlaS - COG0013
class_II_aaRS-like_c - cd00768
AlaRS_core - cd00673
tRNA-synt_2c - pfam01411
COG2872 - COG2872
tRNA_SAD - smart00863
tRNA_SAD - pfam07973


Swiss-Prot Protein: Q5JTZ9
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AlaSCOG00132.1e-23234985
class_II_aaRS-like_ccd007680.0001838273
AlaRS_corecd006731.3e-14139280
tRNA-synt_2cpfam014117.6e-24241624
COG2872COG28721.2e-13534789
tRNA_SADpfam079732.7e-10721779
tRNA_SADsmart008633.2e-13721779

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027610Polymorphismp.ALA484ASPN/A
Swiss-ProtVAR_065957Diseasep.ARG592TRPCombined oxidative phosphorylation deficiency 8 (COXPD8)
Swiss-ProtVAR_027609Polymorphismp.ILE339VALN/A
Swiss-ProtVAR_065956Diseasep.LEU155ARGCombined oxidative phosphorylation deficiency 8 (COXPD8)
Swiss-ProtVAR_057357Polymorphismp.MET850VALN/A



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