Results for the protein: O95340

Results for the Protein: O95340

20178315

9060

PAPSS2

NCBI, UniProt

PAPS2_HUMAN RecName: Full=Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; Short=PAPS synthase 2; Short=PAPSS 2; AltName: Full=Sulfurylase kinase 2; Short=SK 2; Short=SK2; Includes: RecName: Full=Sulfate adenylyltransferase; AltName: Full=ATP-sulfurylase; AltName: Full=Sulfate adenylate transferase; Short=SAT; Includes: RecName: Full=Adenylyl-sulfate kinase; AltName: Full=3'-phosphoadenosine-5'-phosphosulfate synthase; AltName: Full=APS kinase; AltName: Full=Adenosine-5'-phosphosulfate 3'-phosphotransferase; AltName: Full=Adenylylsulfate 3'-phosphotransferase

Known Diseases associated with this Protein:
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE (SEMD-PA)

4

4

3

1

4

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Default View: CysC - COG0529 APS_kinase - pfam01583 APSK - cd02027 NK - cd02019 MET3 - COG2046 ATPS - cd00517 ATP-sulfurylase - pfam01747 - cd02158	Swiss-Prot Protein: O95340 Identical to: NP_004661 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NK	cd02019	8e-10	44	194
APSK	cd02027	1.3e-109	44	194
ATPS	cd00517	7.7e-203	244	607
	cd02158	1.6e-77	389	582
APS_kinase	pfam01583	8.6e-115	41	199
MET3	COG2046	1.7e-16	218	612
ATP-sulfurylase	pfam01747	5.8e-145	285	608

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029138	Polymorphism	p.ARG432LYS	N/A
Swiss-Prot	VAR_029136	Polymorphism	p.GLU10LYS	N/A
dbSNP	rs45624631	Polymorphism	p.MET281LEU	N/A
Swiss-Prot	VAR_063049	Disease	p.THR48ARG	Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA)
Swiss-Prot	VAR_022077	Polymorphism	p.VAL291MET	N/A
OMIM	603005.0003	Disease	p.ARG324TER	BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
OMIM	603005.0001	Disease	p.SER433TER	BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
OMIM	603005.0002	Disease	p.THR48ARG	BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES

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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