Results for the protein: Q96EN8

Results for the Protein: Q96EN8

296438294

55034

MOCOS

NCBI, UniProt

MOCOS_HUMAN RecName: Full=Molybdenum cofactor sulfurase; Short=MCS; Short=MOS; Short=MoCo sulfurase; Short=hMCS; AltName: Full=Molybdenum cofactor sulfurtransferase

Known Diseases associated with this Protein:
XANTHINURIA 2 (XU2)

3

9

0

7

5

Tips:

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Default View: csdA - COG0520 Aminotran_5 - pfam00266 SufS_like - cd06453 MOSC_N - pfam03476 COG3217 - COG3217 MOSC - pfam03473	Swiss-Prot Protein: Q96EN8 Identical to: NP_060417 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SufS_like	cd06453	1.8e-08	50	485
Aminotran_5	pfam00266	8.5e-09	50	481
MOSC_N	pfam03476	2.4e-32	581	701
COG3217	COG3217	6.7e-19	584	866
MOSC	pfam03473	3e-35	719	866

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_027528	Disease	p.ALA57PRO	Xanthinuria 2 (XU2)
Swiss-Prot	VAR_045899	Disease	p.ARG776CYS	Xanthinuria 2 (XU2)
Swiss-Prot	VAR_027535	Polymorphism	p.ASP495ASN	N/A
dbSNP	rs623558	Polymorphism	p.HIS225ARG	N/A
dbSNP	rs594445	Polymorphism	p.HIS703ASN	N/A
dbSNP	rs3744900	Polymorphism	p.SER120ASN	N/A
dbSNP	rs540967	Polymorphism	p.SER184GLY	N/A
dbSNP	rs623053	Polymorphism	p.THR170ILE	N/A
Swiss-Prot	VAR_027533	Disease	p.THR294ILE	Xanthinuria 2 (XU2)
dbSNP	rs1057251	Polymorphism	p.VAL867ALA	N/A
Swiss-Prot	VAR_027536	Polymorphism	p.VAL541LEU	N/A
dbSNP	rs678560	Polymorphism	p.VAL358MET	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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