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Results for the Protein: P49917
88911290

DNLI4_HUMAN RecName: Full=DNA ligase 4; AltName: Full=DNA ligase IV; AltName: Full=Polydeoxyribonucleotide synthase [ATP] 4

Known Diseases associated with this Protein:
  LIG4 SYNDROME
  LIG4 SYNDROME (LIG4S)
  MULTIPLE MYELOMA, RESISTANCE TO
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Default View:

BRCT - smart00292
DNA_ligase_IV - pfam11411


Swiss-Prot Protein: P49917
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRCTsmart002923.3e-13657733
DNA_ligase_IVpfam114111.5e-23749784
BRCTsmart002923e-14811901

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2232642 Polymorphismp.ALA857THRN/A
dbSNPrs1805389 Polymorphismp.ALA3VALN/A
Swiss-ProtVAR_012774Diseasep.ARG278HISLIG4 syndrome (LIG4S)
Swiss-ProtVAR_029353Polymorphismp.ASP62HISN/A
Swiss-ProtVAR_044124Polymorphismp.GLU461GLYN/A
Swiss-ProtVAR_012775Diseasep.GLY469GLULIG4 syndrome (LIG4S)
dbSNPrs2232641 Polymorphismp.ILE658VALN/A
Swiss-ProtVAR_016771Polymorphismp.LEU539PHEN/A
Swiss-ProtVAR_018808Polymorphismp.PRO231SERN/A
dbSNPrs1805388 Polymorphismp.THR9ILEN/A
OMIM601837.0005 Diseasep.ALA3VALMULTIPLE MYELOMA, RESISTANCE TO
OMIM601837.0004 Diseasep.ARG278HISLIG4 SYNDROME
OMIM601837.0001 Diseasep.ARG580TERLIG4 SYNDROME
OMIM601837.0002 Diseasep.ARG814TERLIG4 SYNDROME
OMIM601837.0003 Diseasep.GLY469GLULIG4 SYNDROME
OMIM601837.0006 Diseasep.THR9ILEMULTIPLE MYELOMA, RESISTANCE TO



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