Results for the protein: P13686

Results for the Protein: P13686

56757583

54

ACP5

NCBI, UniProt

PPA5_HUMAN RecName: Full=Tartrate-resistant acid phosphatase type 5; Short=TR-AP; AltName: Full=Tartrate-resistant acid ATPase; Short=TrATPase; AltName: Full=Type 5 acid phosphatase; Flags: Precursor

Known Diseases associated with this Protein:
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (SPENCDI)

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4

6

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: MPP_PAPs - cd00839 Metallophos - pfam00149 MPP_Nbla03831 - cd07396 MPP_ACP5 - cd07378 MPP_superfamily - cd00838 MPP_YydB - cd07400	Swiss-Prot Protein: P13686 Identical to: NP_001104504, NP_001104505, NP_001602, NP_001104506 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MPP_ACP5	cd07378	2.3e-156	26	311
MPP_Nbla03831	cd07396	0.00092	26	284
MPP_superfamily	cd00838	1.2e-27	29	259
MPP_YydB	cd07400	8.3e-06	36	262
Metallophos	pfam00149	2.8e-24	26	244

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065926	Disease	p.ASN262HIS	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
dbSNP	rs62638748	Polymorphism	p.ASP287ALA	N/A
Swiss-Prot	VAR_065925	Disease	p.ASP241ASN	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065922	Disease	p.GLY109ARG	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065924	Disease	p.GLY215ARG	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065923	Disease	p.LEU201PRO	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065920	Disease	p.LYS52MET	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065927	Disease	p.MET264LYS	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-Prot	VAR_065921	Disease	p.THR89ILE	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
dbSNP	rs2229532	Polymorphism	p.VAL221ILE	N/A
dbSNP	rs2305799	Polymorphism	p.VAL148MET	N/A
dbSNP	rs2229531	Polymorphism	p.VAL200MET	N/A
OMIM	171640.0002	Disease	p.GLN223TER	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM	171640.0005	Disease	p.GLY109ARG	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM	171640.0004	Disease	p.GLY215ARG	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM	171640.0007	Disease	p.LEU201PRO	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM	171640.0003	Disease	p.MET264LYS	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM	171640.0001	Disease	p.THR89ILE	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

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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