Results for the protein: P43034

Results for the Protein: P43034

1170794

5048

PAFAH1B1

NCBI, UniProt

LIS1_HUMAN RecName: Full=Platelet-activating factor acetylhydrolase IB subunit alpha; AltName: Full=Lissencephaly-1 protein; Short=LIS-1; AltName: Full=PAF acetylhydrolase 45 kDa subunit; Short=PAF-AH 45 kDa subunit; AltName: Full=PAF-AH alpha; Short=PAFAH alpha

Known Diseases associated with this Protein:
  LISSENCEPHALY 1
  LISSENCEPHALY 1 (LIS1)
  SUBCORTICAL BAND HETEROTOPIA (SBH)
  SUBCORTICAL LAMINAR HETEROTOPIA

16

0

9

0

7

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Default View: LisH - smart00667 LisH - pfam08513 WD40 - smart00320	Swiss-Prot Protein: P43034 Identical to: NP_000421 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LisH	pfam08513	2.2e-09	9	35
WD40	smart00320	7.2e-07	97	136
WD40	smart00320	1.5e-11	139	178
WD40	smart00320	6.9e-12	181	220
WD40	smart00320	2e-08	223	262
WD40	smart00320	3e-12	265	324
WD40	smart00320	2.6e-11	327	366
WD40	smart00320	1.2e-10	369	408

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037300	Disease	p.ARG241PRO	Subcortical band heterotopia (SBH)
Swiss-Prot	VAR_015400	Disease	p.ASP317HIS	Lissencephaly 1 (LIS1)
Swiss-Prot	VAR_015399	Disease	p.GLY162SER	Lissencephaly 1 (LIS1)
Swiss-Prot	VAR_007724	Disease	p.HIS149ARG	Lissencephaly 1 (LIS1)
Swiss-Prot	VAR_037301	Disease	p.HIS277PRO	Lissencephaly 1 (LIS1)
Swiss-Prot	VAR_015398	Disease	p.PHE31SER	Lissencephaly 1 (LIS1)
Swiss-Prot	VAR_010203	Disease	p.SER169PRO	Subcortical band heterotopia (SBH)
OMIM	601545.0008	Disease	p.ARG241PRO	SUBCORTICAL LAMINAR HETEROTOPIA
OMIM	601545.0002	Disease	p.ARG273TER	LISSENCEPHALY 1
OMIM	601545.0009	Disease	p.ARG8TER	SUBCORTICAL LAMINAR HETEROTOPIA\|\|LISSENCEPHALY 1
OMIM	601545.0005	Disease	p.ASP317HIS	LISSENCEPHALY 1
OMIM	601545.0007	Disease	p.GLY162SER	LISSENCEPHALY 1
OMIM	601545.0001	Disease	p.HIS149ARG	LISSENCEPHALY 1
OMIM	601545.0010	Disease	p.HIS277PRO	LISSENCEPHALY 1
OMIM	601545.0006	Disease	p.PHE31SER	LISSENCEPHALY 1
OMIM	601545.0004	Disease	p.SER169PRO	SUBCORTICAL LAMINAR HETEROTOPIA

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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