Results for the protein: P18858

Results for the Protein: P18858

118773

3978

LIG1

NCBI, UniProt

DNLI1_HUMAN RecName: Full=DNA ligase 1; AltName: Full=DNA ligase I; AltName: Full=Polydeoxyribonucleotide synthase [ATP] 1

Known Diseases associated with this Protein:
DNA LIGASE I DEFICIENCY

2

16

2

3

13

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Swiss-Prot Protein: P18858

Identical to: NP_000225

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Adenylation_DNA_liga	cd07902	4.5e-17	526	749
Adenylation_DNA_liga	cd07903	5.3e-34	529	751
Adenylation_DNA_liga	cd07900	9.8e-170	531	749
Adenylation_DNA_liga	cd07897	4.1e-14	536	750
Adenylation_DNA_liga	cd07901	1.1e-57	536	748
Adenylation_DNA_liga	cd06846	2.9e-74	540	747
Adenylation_DNA_liga	cd07898	2.9e-108	540	748
Adenylation_DNA_liga	cd07905	8.7e-07	540	749
Adenylation_DNA_liga	cd07906	1.5e-19	540	748
	cd07907	2e-21	540	749
Adenylation_DNA_liga	cd08039	2.3e-06	540	748
OBF_DNA_ligase_III	cd07967	8.5e-11	753	892
OBF_DNA_ligase_IV	cd07968	3.9e-12	754	890
OBF_DNA_ligase_I	cd07969	1.6e-100	754	899
OBF_DNA_ligase	cd07893	2.3e-81	755	887
OBF_DNA_ligase_LigD	cd07971	2.1e-08	755	887
OBF_DNA_ligase_Arch_	cd07972	9.6e-24	755	895
OBF_DNA_ligase_famil	cd08040	2.6e-75	755	879
DNA_ligase_A_N	pfam04675	2.1e-72	287	465
DNA_ligase_A_M	pfam01068	5.8e-101	542	746
DNA_ligase_A_C	pfam04679	5.6e-40	771	882

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3730855	Polymorphism	p.ALA24VAL	N/A
Swiss-Prot	VAR_016768	Polymorphism	p.ARG409HIS	N/A
dbSNP	rs3731008	Polymorphism	p.ARG677LEU	N/A
Swiss-Prot	VAR_018803	Polymorphism	p.ARG62TRP	N/A
Swiss-Prot	VAR_002263	Polymorphism	p.ARG771TRP	N/A
Swiss-Prot	VAR_016767	Polymorphism	p.ASN267SER	N/A
Swiss-Prot	VAR_020195	Polymorphism	p.ASP72GLY	N/A
Swiss-Prot	VAR_002262	Polymorphism	p.GLU566LYS	N/A
Swiss-Prot	VAR_016766	Polymorphism	p.GLY249GLU	N/A
Swiss-Prot	VAR_036511	Polymorphism	p.LYS152GLU	N/A
Swiss-Prot	VAR_016769	Polymorphism	p.MET480VAL	N/A
Swiss-Prot	VAR_020194	Polymorphism	p.PRO52LEU	N/A
Swiss-Prot	VAR_036512	Polymorphism	p.SER612LEU	N/A
dbSNP	rs3731003	Polymorphism	p.THR614ILE	N/A
Swiss-Prot	VAR_018805	Polymorphism	p.VAL369ILE	N/A
Swiss-Prot	VAR_018804	Polymorphism	p.VAL349MET	N/A
OMIM	126391.0002	Disease	p.ARG771TRP	DNA LIGASE I DEFICIENCY
OMIM	126391.0001	Disease	p.GLU566LYS	DNA LIGASE I DEFICIENCY

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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