Results for the protein: P49917

Results for the Protein: P49917

88911290

3981

LIG4

NCBI, UniProt

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

8

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6

4

6

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Default View: BRCT - smart00292 DNA_ligase_IV - pfam11411	Swiss-Prot Protein: P49917 Identical to: NP_001091738, NP_002303, NP_996820 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DNA_ligase_IV	pfam11411	1.5e-23	749	784
BRCT	smart00292	3e-14	811	901

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2232642	Polymorphism	p.ALA857THR	N/A
dbSNP	rs1805389	Polymorphism	p.ALA3VAL	N/A
Swiss-Prot	VAR_012774	Disease	p.ARG278HIS	LIG4 syndrome (LIG4S)
Swiss-Prot	VAR_029353	Polymorphism	p.ASP62HIS	N/A
Swiss-Prot	VAR_044124	Polymorphism	p.GLU461GLY	N/A
Swiss-Prot	VAR_012775	Disease	p.GLY469GLU	LIG4 syndrome (LIG4S)
dbSNP	rs2232641	Polymorphism	p.ILE658VAL	N/A
Swiss-Prot	VAR_016771	Polymorphism	p.LEU539PHE	N/A
Swiss-Prot	VAR_018808	Polymorphism	p.PRO231SER	N/A
dbSNP	rs1805388	Polymorphism	p.THR9ILE	N/A
OMIM	601837.0005	Disease	p.ALA3VAL	MULTIPLE MYELOMA, RESISTANCE TO
OMIM	601837.0004	Disease	p.ARG278HIS	LIG4 SYNDROME
OMIM	601837.0001	Disease	p.ARG580TER	LIG4 SYNDROME
OMIM	601837.0002	Disease	p.ARG814TER	LIG4 SYNDROME
OMIM	601837.0003	Disease	p.GLY469GLU	LIG4 SYNDROME
OMIM	601837.0006	Disease	p.THR9ILE	MULTIPLE MYELOMA, RESISTANCE TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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