Results for the protein: P22033

Results for the Protein: P22033

317373575

4594

MUT

NCBI, UniProt

MUTA_HUMAN RecName: Full=Methylmalonyl-CoA mutase, mitochondrial; Short=MCM; AltName: Full=Methylmalonyl-CoA isomerase; Flags: Precursor

Known Diseases associated with this Protein:
  METHYLMALONIC ACIDURIA TYPE MUT (MMAM)
  METHYLMALONIC ACIDURIA, MUT(-) TYPE
  METHYLMALONIC ACIDURIA, MUT(0) TYPE

95

6

11

3

87

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Default View:	Swiss-Prot Protein: P22033 Identical to: NP_000246 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_004411	Disease	p.ALA191GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026601	Disease	p.ALA197GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004418	Disease	p.ALA377GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022408	Disease	p.ALA535PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_023474	Disease	p.ALA324THR	Methylmalonic aciduria type mut (MMAM)
dbSNP	rs2229385	Polymorphism	p.ALA499THR	N/A
Swiss-Prot	VAR_022395	Disease	p.ALA137VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026596	Disease	p.ARG108CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026612	Disease	p.ARG369CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_023476	Disease	p.ARG616CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004412	Disease	p.ARG228GLN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026597	Disease	p.ARG108GLY	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022394	Disease	p.ARG108HIS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004417	Disease	p.ARG369HIS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004419	Polymorphism	p.ARG532HIS	N/A
Swiss-Prot	VAR_004409	Disease	p.ARG93HIS	Methylmalonic aciduria type mut (MMAM)
dbSNP	rs1141321	Polymorphism	p.ARG532PRO	N/A
Swiss-Prot	VAR_004430	Disease	p.ARG694TRP	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026617	Disease	p.ASN388HIS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026600	Disease	p.ASN189LYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022403	Disease	p.ASN219TYR	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022397	Disease	p.ASP156ASN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022416	Disease	p.ASP640TYR	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026623	Disease	p.CYS560TYR	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_023473	Disease	p.GLN109ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022412	Disease	p.GLN624ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022402	Disease	p.GLN218HIS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026614	Disease	p.GLN383HIS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022405	Disease	p.GLN293PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026615	Disease	p.GLN383PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022400	Disease	p.GLY203ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026620	Disease	p.GLY426ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004420	Disease	p.GLY623ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026627	Disease	p.GLY637ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022417	Disease	p.GLY642ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004431	Disease	p.GLY703ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026594	Disease	p.GLY94ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026621	Disease	p.GLY427ASP	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004424	Disease	p.GLY648ASP	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026602	Disease	p.GLY215CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004421	Disease	p.GLY626CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026606	Disease	p.GLY291GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004422	Disease	p.GLY630GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022414	Disease	p.GLY637GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026593	Disease	p.GLY87GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026598	Disease	p.GLY145SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022401	Disease	p.GLY215SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022398	Disease	p.GLY158VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004414	Disease	p.GLY312VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004432	Disease	p.GLY717VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022393	Disease	p.GLY94VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022413	Disease	p.HIS627ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004427	Disease	p.HIS678ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026616	Disease	p.HIS386ASN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026604	Disease	p.HIS265TYR	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026611	Disease	p.HIS350TYR	Methylmalonic aciduria type mut (MMAM)
dbSNP	rs8589	Polymorphism	p.ILE671VAL	N/A
Swiss-Prot	VAR_023472	Polymorphism	p.ILE69VAL	N/A
Swiss-Prot	VAR_026610	Disease	p.LEU347ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_023477	Disease	p.LEU617ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004429	Disease	p.LEU685ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022406	Disease	p.LEU328PHE	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_023475	Disease	p.LEU328PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026622	Disease	p.LEU518PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026605	Disease	p.LEU281SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026607	Disease	p.LEU305SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022411	Disease	p.LYS621ASN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022418	Disease	p.MET700LYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026599	Disease	p.MET186VAL	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022415	Disease	p.PHE638ILE	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022399	Disease	p.PHE174SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026625	Disease	p.PHE573SER	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026626	Disease	p.PRO615ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026595	Disease	p.PRO95ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026592	Disease	p.PRO86LEU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022410	Disease	p.PRO615THR	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022404	Disease	p.SER262ASN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022396	Disease	p.SER148LEU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026608	Disease	p.SER306PHE	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_030495	Polymorphism	p.THR598ALA	N/A
Swiss-Prot	VAR_026624	Disease	p.THR566ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026603	Disease	p.THR230ILE	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026613	Disease	p.THR370PRO	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004410	Disease	p.TRP105ARG	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004413	Disease	p.TYR231ASN	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_026609	Disease	p.TYR316CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_022409	Disease	p.TYR587CYS	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004416	Disease	p.VAL368ASP	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004425	Disease	p.VAL669GLU	Methylmalonic aciduria type mut (MMAM)
Swiss-Prot	VAR_004423	Disease	p.VAL633GLY	Methylmalonic aciduria type mut (MMAM)
OMIM	609058.0003	Disease	p.ALA378GLU	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0011	Disease	p.ARG108CYS	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0004	Disease	p.ARG93HIS	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0010	Disease	p.ASN219TYR	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0001	Disease	p.GLN17TER	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0006	Disease	p.GLU117TER	METHYLMALONIC ACIDURIA, mut(-) TYPE
OMIM	609058.0008	Disease	p.GLY623ARG	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0009	Disease	p.GLY703ARG	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0012	Disease	p.GLY215SER	METHYLMALONIC ACIDURIA, mut(0) TYPE
OMIM	609058.0005	Disease	p.GLY717VAL	METHYLMALONIC ACIDURIA, mut(-) TYPE
OMIM	609058.0002	Disease	p.TRP105ARG	METHYLMALONIC ACIDURIA, mut(0) TYPE

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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