Results for the protein: NP

Results for the Protein: NP_001007594

300795589

6609

SMPD1

NCBI

sphingomyelin phosphodiesterase isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL
  NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
  NIEMANN-PICK DISEASE, TYPE A
  NIEMANN-PICK DISEASE, TYPE B

14

4

14

4

0

Tips:

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Default View: SapB - smart00741 Metallophos - pfam00149 MPP_ASMase - cd00842 MPP_superfamily - cd00838	RefSeq Protein: NP_001007594 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MPP_superfamily	cd00838	1.8e-17	203	495
Metallophos	pfam00149	5.6e-42	200	462
SapB	smart00741	8.1e-07	89	166

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35824453	Polymorphism	p.ARG295GLN	N/A
dbSNP	rs1050239	Polymorphism	p.GLY507ARG	N/A
dbSNP	rs35785620	Polymorphism	p.THR587MET	N/A
dbSNP	rs1050228	Polymorphism	p.VAL36ALA	N/A
OMIM	607608.0016	Disease	p.ALA481GLU	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0001	Disease	p.ARG495LEU	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0014	Disease	p.ARG440TER	NIEMANN-PICK DISEASE, TYPE B
OMIM	607608.0009	Disease	p.ASN382SER	NIEMANN-PICK DISEASE, TYPE B
OMIM	607608.0015	Disease	p.GLN291LYS	NIEMANN-PICK DISEASE, TYPE B\|\|NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
OMIM	607608.0008	Disease	p.GLY241ARG	NIEMANN-PICK DISEASE, TYPE B
OMIM	607608.0003	Disease	p.GLY576SER	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0013	Disease	p.HIS420TYR	NIEMANN-PICK DISEASE, TYPE B
OMIM	607608.0010	Disease	p.LEU301PRO	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0005	Disease	p.LEU260TER	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0007	Disease	p.MET381ILE	NIEMANN-PICK DISEASE, TYPE A
OMIM	607608.0004	Disease	p.SER435ARG	NIEMANN-PICK DISEASE, TYPE B
OMIM	607608.0012	Disease	p.TRP390GLY	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL
OMIM	607608.0017	Disease	p.TYR466SER	NIEMANN-PICK DISEASE, TYPE 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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