Results for the protein: Q9NZB8

Results for the Protein: Q9NZB8

30913216

4337

MOCS1

NCBI, UniProt

MOCS1_HUMAN RecName: Full=Molybdenum cofactor biosynthesis protein 1; AltName: Full=Cell migration-inducing gene 11 protein; AltName: Full=Molybdenum cofactor synthesis-step 1 protein A-B; Includes: RecName: Full=Cyclic pyranopterin monophosphate synthase; AltName: Full=Molybdenum cofactor biosynthesis protein A; Includes: RecName: Full=Cyclic pyranopterin monophosphate synthase accessory protein; AltName: Full=Molybdenum cofactor biosynthesis protein C

Known Diseases associated with this Protein:
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (MOCODA)

10

2

0

0

12

Tips:

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Default View: COG5014 - COG5014 AslB - COG0641 COG0535 - COG0535 MoaA - COG2896 Elp3 - smart00729 Radical_SAM - pfam04055 Radical_SAM - cd01335 Mob_synth_C - pfam06463 MoaC - COG0315 MoaC - pfam01967 MoaC_PE - cd01420 MoaC - cd00528 MoaC_A - cd01419	Swiss-Prot Protein: Q9NZB8 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG0535	COG0535	6.9e-12	58	400
Radical_SAM	cd01335	1.5e-21	74	270
MoaC	COG0315	4.1e-78	479	636
MoaC	cd00528	7.4e-81	493	628
MoaC_A	cd01419	8.7e-23	493	628
MoaC_PE	cd01420	2.2e-86	493	632
COG5014	COG5014	0.00079	9	250
MoaA	COG2896	3.5e-130	60	385
Radical_SAM	pfam04055	4.5e-38	74	236
MoaC	pfam01967	7e-85	493	628
Elp3	smart00729	3.8e-06	70	271
Mob_synth_C	pfam06463	2.2e-65	241	367

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015661	Disease	p.ARG319GLN	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_061346	Polymorphism	p.ARG452LEU	N/A
Swiss-Prot	VAR_054826	Disease	p.ARG123TRP	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_054823	Disease	p.ARG67TRP	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_015658	Disease	p.ARG73TRP	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_054824	Disease	p.CYS80GLY	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_054825	Disease	p.CYS84PHE	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_054827	Disease	p.GLY324ARG	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_015659	Disease	p.GLY126ASP	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_015660	Disease	p.GLY127ASP	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_015662	Disease	p.GLY324GLU	Molybdenum cofactor deficiency, complementation group A (MOCODA)
Swiss-Prot	VAR_056131	Polymorphism	p.PRO390HIS	N/A

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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