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Results for the Protein: Q15046
20178333

SYK_HUMAN RecName: Full=Lysine--tRNA ligase; AltName: Full=Lysyl-tRNA synthetase; Short=LysRS

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE, INTERMEDIATE TYPE, B (CMTRIB)
  DEAFNESS, AUTOSOMAL RECESSIVE 89
  DEAFNESS, AUTOSOMAL RECESSIVE, 89 (DFNB89)
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2
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1
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

LysU - COG1190
AsnS - COG0017
AspS - COG0173
LysRS_N - cd04322
Asp_Lys_Asn_RS_N - cd04100
tRNA_anti - pfam01336
tRNA-synt_2 - pfam00152
AsxRS_core - cd00776
COG2269 - COG2269
LysRS_core - cd00775
Asp_Lys_Asn_RS_core - cd00669
AspRS_core - cd00777
class_II_aaRS-like_c - cd00768


Swiss-Prot Protein: Q15046
Identical to: NP_005539
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LysUCOG11901.6e-26959577
AsnSCOG00174.5e-10102579
AspSCOG01737.5e-09109587
Asp_Lys_Asn_RS_Ncd041002.1e-21125208
LysRS_Ncd043223.2e-60125234
AsxRS_corecd007767e-10224574
LysRS_corecd007758.4e-254237575
Asp_Lys_Asn_RS_corecd006691.2e-110244575
AspRS_corecd007775.3e-06244575
class_II_aaRS-like_ccd007689.5e-25246554
tRNA_antipfam013361.8e-15126206
tRNA-synt_2pfam001521.7e-130222575
COG2269COG22694e-29229575

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070234Diseasep.ASP349ASNDeafness, autosomal recessive, 89 (DFNB89)
Swiss-ProtVAR_052640Polymorphismp.GLY179ALAN/A
Swiss-ProtVAR_064912Diseasep.ILE274METCharcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)
Swiss-ProtVAR_064911Diseasep.LEU105HISCharcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)
dbSNPrs6834 Polymorphismp.THR595SERN/A
Swiss-ProtVAR_070233Diseasep.TYR145HISDeafness, autosomal recessive, 89 (DFNB89)
OMIM601421.0004 Diseasep.ASP349ASNDEAFNESS, AUTOSOMAL RECESSIVE 89
OMIM601421.0001 Diseasep.LEU105HISCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
OMIM601421.0003 Diseasep.TYR145HISDEAFNESS, AUTOSOMAL RECESSIVE 89



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