Results for the protein: P30566

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Adenylsuccinate_lyas	cd03302		17	452
PurB	COG0015	2.3e-165	17	463
Adenylsuccinate_lyas	cd01360	9.7e-24	20	459
Adenylsuccinate_lyas	cd01595	1.5e-205	26	452
Lyase_I	cd01334	1.6e-105	36	365
Lyase_I_like	cd01594	1.8e-80	36	356
PurB	cd01598	9.3e-06	44	362
Lyase_1	pfam00206	6.6e-08	19	313
ADSL_C	pfam10397	6.5e-27	377	461

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016930	Disease	p.ALA2VAL	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017078	Disease	p.ALA3VAL	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017081	Disease	p.ARG194CYS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007976	Disease	p.ARG303CYS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017087	Disease	p.ARG396CYS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007974	Disease	p.ARG190GLN	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017088	Disease	p.ARG396HIS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007978	Disease	p.ARG426HIS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017093	Disease	p.ARG452PRO	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007973	Disease	p.ARG141TRP	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017086	Disease	p.ARG374TRP	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017082	Disease	p.ASP268ASN	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017091	Disease	p.ASP430ASN	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017089	Disease	p.ASP422TYR	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007972	Disease	p.ILE72VAL	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017083	Disease	p.LEU311VAL	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017090	Disease	p.LEU423VAL	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007975	Disease	p.LYS246GLU	Adenylosuccinase deficiency (ADSL deficiency)
dbSNP	rs11089991	Polymorphism	p.LYS147MET	N/A
Swiss-Prot	VAR_016931	Disease	p.MET26LEU	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017079	Disease	p.PRO100ALA	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017084	Disease	p.PRO318LEU	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_007977	Disease	p.SER395ARG	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_037883	Polymorphism	p.SER31ASN	N/A
Swiss-Prot	VAR_000680	Disease	p.SER438PRO	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017092	Disease	p.SER447PRO	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_016932	Disease	p.THR450SER	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017080	Disease	p.TYR114HIS	Adenylosuccinase deficiency (ADSL deficiency)
Swiss-Prot	VAR_017085	Disease	p.VAL364MET	Adenylosuccinase deficiency (ADSL deficiency)
OMIM	608222.0005	Disease	p.ARG190GLN	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0002	Disease	p.ARG426HIS	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0004	Disease	p.ASP397TYR	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0006	Disease	p.LYS246GLU	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0008	Disease	p.MET225THR	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0003	Disease	p.PRO75ALA	ADENYLOSUCCINASE DEFICIENCY
OMIM	608222.0001	Disease	p.SER413PRO	ADENYLOSUCCINASE 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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