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Results for the Protein: Q9P2J5
48428689

SYLC_HUMAN RecName: Full=Leucine--tRNA ligase, cytoplasmic; AltName: Full=Leucyl-tRNA synthetase; Short=LeuRS

Known Diseases associated with this Protein:
  INFANTILE LIVER FAILURE SYNDROME 1 (1 FAMILY)
  INFANTILE LIVER FAILURE SYNDROME 1 (ILFS1)
2
3
1
1
3
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Default View:

LeuS - COG0495
ValS - COG0525
tRNA-synt_1 - pfam00133
LeuRS_core - cd00812
Ile_Leu_Val_MetRS_co - cd00668
MetG - COG0143
Anticodon_Ia_Leu_AEc - cd07959
Anticodon_1 - pfam08264


Swiss-Prot Protein: Q9P2J5
Identical to: NP_064502
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ValSCOG05251.3e-0611050
Ile_Leu_Val_MetRS_cocd006681.7e-5345755
LeuRS_corecd008124.4e-23045757
MetGCOG01430.00052492920
Anticodon_Ia_Leu_AEccd079594.5e-59755874
tRNA-synt_1pfam001331.2e-0619756
Anticodon_1pfam082643.3e-16794934

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052637Polymorphismp.ARG1088LYSN/A
dbSNPrs61732383 Polymorphismp.ASN892ASPN/A
Swiss-ProtVAR_070437Polymorphismp.LYS82ARGN/A
Swiss-ProtVAR_070438Diseasep.TYR373CYSInfantile liver failure syndrome 1 (ILFS1)
OMIM151350.0001 Diseasep.TYR373CYSINFANTILE LIVER FAILURE SYNDROME 1 (1 family)



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