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Results for the Protein: NP_001123561
194272210

lysine--tRNA ligase isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
  DEAFNESS, AUTOSOMAL RECESSIVE 89
3
1
3
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LysUCOG11901.6e-26987605
AsnSCOG00174.5e-10130607
AspSCOG01737.5e-09137615
Asp_Lys_Asn_RS_Ncd041002.1e-21153236
LysRS_Ncd043223.2e-60153262
AsxRS_corecd007767e-10252602
LysRS_corecd007758.4e-254265603
Asp_Lys_Asn_RS_corecd006691.2e-110272603
AspRS_corecd007775.3e-06272603
class_II_aaRS-like_ccd007689.5e-25274582
tRNA_antipfam013361.8e-15154234
tRNA-synt_2pfam001521.7e-130250603
COG2269COG22694e-29257603

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6834 Polymorphismp.THR623SERN/A
OMIM601421.0004 Diseasep.ASP377ASNDEAFNESS, AUTOSOMAL RECESSIVE 89
OMIM601421.0001 Diseasep.LEU133HISCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
OMIM601421.0003 Diseasep.TYR173HISDEAFNESS, AUTOSOMAL RECESSIVE 89



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