Results for the protein: O15305

Results for the Protein: O15305

3024413

5373

PMM2

NCBI, UniProt

PMM2_HUMAN RecName: Full=Phosphomannomutase 2; Short=PMM 2

Known Diseases associated with this Protein:
CONGENITAL DISORDER OF GLYCOSYLATION 1A (CDG1A)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA

87

3

19

0

71

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Default View:	Swiss-Prot Protein: O15305 Identical to: NP_000294 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006114	Disease	p.ALA233THR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006097	Disease	p.ALA108VAL	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022485	Disease	p.ARG141CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006101	Disease	p.ARG123GLN	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022509	Disease	p.ARG238GLY	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006105	Disease	p.ARG141HIS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006116	Disease	p.ARG238PRO	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006106	Disease	p.ARG162TRP	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006110	Disease	p.ASN216ILE	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006095	Disease	p.ASN101LYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022501	Disease	p.ASN216SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022487	Disease	p.ASP148ASN	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022504	Disease	p.ASP223ASN	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022502	Disease	p.ASP217GLU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006111	Disease	p.ASP223GLU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022495	Disease	p.ASP185GLY	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006108	Disease	p.ASP188GLY	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006094	Disease	p.ASP65TYR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022496	Disease	p.CYS192GLY	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022481	Disease	p.CYS103PHE	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022510	Disease	p.CYS241SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022469	Disease	p.CYS9TYR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022493	Disease	p.GLN177HIS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022474	Disease	p.GLN37HIS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022133	Polymorphism	p.GLN37LEU	N/A
Swiss-Prot	VAR_022498	Disease	p.GLU197ALA	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022480	Disease	p.GLU93ALA	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022488	Disease	p.GLU151GLY	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_009232	Disease	p.GLU139LYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006109	Disease	p.GLY208ALA	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006099	Disease	p.GLY117ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006107	Disease	p.GLY175ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022507	Disease	p.GLY228ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022475	Polymorphism	p.GLY42ARG	N/A
Swiss-Prot	VAR_022506	Disease	p.GLY228CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022471	Disease	p.GLY15GLU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022500	Disease	p.GLY214SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022492	Disease	p.GLY176VAL	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022497	Disease	p.HIS195ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022503	Disease	p.HIS218LEU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022484	Disease	p.ILE132ASN	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022483	Disease	p.ILE132PHE	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022482	Disease	p.ILE120THR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006104	Disease	p.ILE132THR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022489	Disease	p.ILE153THR	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022473	Disease	p.LEU32ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_012344	Disease	p.LEU104VAL	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022134	Polymorphism	p.MET212VAL	N/A
Swiss-Prot	VAR_022470	Disease	p.PHE11CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006100	Disease	p.PHE119LEU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022486	Disease	p.PHE144LEU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022490	Disease	p.PHE157SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022494	Disease	p.PHE183SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022499	Disease	p.PHE206SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022491	Disease	p.PHE172VAL	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006103	Disease	p.PRO131ALA	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006098	Disease	p.PRO113LEU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022472	Disease	p.PRO20SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022478	Disease	p.PRO69SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022508	Disease	p.THR237ARG	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006115	Disease	p.THR237MET	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022505	Disease	p.THR226SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006096	Disease	p.TYR106CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022476	Disease	p.TYR64CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022479	Disease	p.TYR76CYS	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006112	Disease	p.TYR229SER	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006093	Disease	p.VAL44ALA	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022563	Disease	p.VAL44LEU	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006102	Disease	p.VAL129MET	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_006113	Disease	p.VAL231MET	Congenital disorder of glycosylation 1A (CDG1A)
Swiss-Prot	VAR_022477	Disease	p.VAL67MET	Congenital disorder of glycosylation 1A (CDG1A)
OMIM	601785.0001	Disease	p.ARG141HIS	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0004	Disease	p.ARG162TRP	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0002	Disease	p.ASN216ILE	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0009	Disease	p.ASP223GLU	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0007	Disease	p.ASP188GLY	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0005	Disease	p.ASP65TYR	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0012	Disease	p.CYS241SER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0015	Disease	p.CYS9TYR	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0008	Disease	p.GLY117ARG	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0013	Disease	p.ILE132THR	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0016	Disease	p.LEU32ARG	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0006	Disease	p.PHE119LEU	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0018	Disease	p.PRO113LEU	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0011	Disease	p.THR237ARG	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0017	Disease	p.THR226SER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0023	Disease	p.TYR106PHE	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0020	Disease	p.VAL44ALA	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0003	Disease	p.VAL129MET	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM	601785.0014	Disease	p.VAL231MET	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

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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