Results for the protein: Q9H161

Results for the Protein: Q9H161

254763249

60529

ALX4

NCBI, UniProt

ALX4_HUMAN RecName: Full=Homeobox protein aristaless-like 4

Known Diseases associated with this Protein:
  CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
  FRONTONASAL DYSPLASIA 2
  PARIETAL FORAMINA 2
  PARIETAL FORAMINA 2 (PFM2)

10

6

8

2

6

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Default View: COG5576 - COG5576 HOX - smart00389 Homeobox - pfam00046 homeodomain - cd00086 OAR - pfam03826	Swiss-Prot Protein: Q9H161 Identical to: NP_068745 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5576	COG5576	2.9e-06	163	316
Homeobox	pfam00046	1.5e-34	215	271
OAR	pfam03826	1.3e-09	386	406
HOX	smart00389	1.1e-28	215	270

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010785	Disease	p.ARG218GLN	Parietal foramina 2 (PFM2)
Swiss-Prot	VAR_010897	Disease	p.ARG272PRO	Parietal foramina 2 (PFM2)
Swiss-Prot	VAR_058413	Polymorphism	p.ARG257THR	N/A
dbSNP	rs3824915	Polymorphism	p.ARG35THR	N/A
Swiss-Prot	VAR_069280	Polymorphism	p.LYS211GLU	N/A
Swiss-Prot	VAR_069281	Polymorphism	p.PRO306LEU	N/A
dbSNP	rs12421995	Polymorphism	p.PRO102SER	N/A
Swiss-Prot	VAR_069279	Polymorphism	p.VAL7PHE	N/A
OMIM	605420.0003	Disease	p.ARG218GLN	PARIETAL FORAMINA 2
OMIM	605420.0005	Disease	p.ARG272PRO	PARIETAL FORAMINA 2
OMIM	605420.0008	Disease	p.ARG265TER	FRONTONASAL DYSPLASIA 2
OMIM	605420.0001	Disease	p.GLN140TER	PARIETAL FORAMINA 2
OMIM	605420.0002	Disease	p.GLN246TER	PARIETAL FORAMINA 2
OMIM	605420.0010	Disease	p.LYS211GLU	CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
OMIM	605420.0006	Disease	p.SER207TER	PARIETAL FORAMINA 2
OMIM	605420.0009	Disease	p.VAL7PHE	CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO

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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