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Results for the Protein: Q15031
2501029

SYLM_HUMAN RecName: Full=Probable leucine--tRNA ligase, mitochondrial; AltName: Full=Leucyl-tRNA synthetase; Short=LeuRS; Flags: Precursor

Known Diseases associated with this Protein:
  PERRAULT SYNDROME 4
  PERRAULT SYNDROME 4 (PRLTS4)
4
2
2
2
2
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

IleS - COG0060
ValS - COG0525
LeuS - COG0495
tRNA-synt_1 - pfam00133
MetG - COG0143
IleRS_core - cd00818
ValRS_core - cd00817
MetRS_core - cd00814
Ile_Leu_Val_MetRS_co - cd00668
LeuRS_core - cd00812
tRNA-synt_1g - pfam09334
Anticodon_Ia_Leu_BEm - cd07958
Anticodon_1 - pfam08264


Swiss-Prot Protein: Q15031
Identical to: NP_056155
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IleSCOG00601.2e-0543901
LeuSCOG04951.9e-22853901
ValSCOG05252.3e-1353899
MetGCOG01431e-0778531
ValRS_corecd008172.5e-1682678
IleRS_corecd008181.9e-0882678
Ile_Leu_Val_MetRS_cocd006685e-1383678
LeuRS_corecd0081283678
MetRS_corecd008142.1e-1083343
Anticodon_Ia_Leu_BEmcd079588.2e-26680803
tRNA-synt_1pfam001336.2e-1358679
tRNA-synt_1gpfam093342e-0984370
Anticodon_1pfam082644.1e-14725870

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs9827689 Polymorphismp.GLU831ASPN/A
dbSNPrs36054230 Polymorphismp.LYS727ASNN/A
Swiss-ProtVAR_070094Diseasep.THR522ASNPerrault syndrome 4 (PRLTS4)
Swiss-ProtVAR_070095Diseasep.THR629METPerrault syndrome 4 (PRLTS4)
OMIM604544.0001 Diseasep.THR522ASNPERRAULT SYNDROME 4
OMIM604544.0002 Diseasep.THR629METPERRAULT SYNDROME 4



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