Results for the protein: Q9HCJ1

Results for the Protein: Q9HCJ1

17366849

56172

ANKH

NCBI, UniProt

ANKH_HUMAN RecName: Full=Progressive ankylosis protein homolog; Short=ANK

Known Diseases associated with this Protein:
  CHONDROCALCINOSIS 2
  CHONDROCALCINOSIS 2 (CCAL2)
  CHONDROCALCINOSIS 2, INCLUDED
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (CMDD)

13

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7

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6

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Default View: ANKH - pfam07260	Swiss-Prot Protein: Q9HCJ1 Identical to: NP_473368 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012193	Disease	p.CYS331ARG	Craniometaphyseal dysplasia, autosomal dominant (CMDD)
Swiss-Prot	VAR_012198	Disease	p.GLY389ARG	Craniometaphyseal dysplasia, autosomal dominant (CMDD)
Swiss-Prot	VAR_017556	Disease	p.MET48THR	Chondrocalcinosis 2 (CCAL2)
Swiss-Prot	VAR_022606	Disease	p.PRO5LEU	Chondrocalcinosis 2 (CCAL2)
Swiss-Prot	VAR_022607	Disease	p.PRO5THR	Chondrocalcinosis 2 (CCAL2)
Swiss-Prot	VAR_012192	Disease	p.TRP292ARG	Craniometaphyseal dysplasia, autosomal dominant (CMDD)
OMIM	605145.0011	Disease	p.CYS339ARG	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
OMIM	605145.0002	Disease	p.GLY389ARG	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT\|\|CHONDROCALCINOSIS 2, INCLUDED
OMIM	605145.0013	Disease	p.LEU334ARG	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
OMIM	605145.0012	Disease	p.LEU391PRO	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
OMIM	605145.0006	Disease	p.MET48THR	CHONDROCALCINOSIS 2
OMIM	605145.0009	Disease	p.PRO5LEU	CHONDROCALCINOSIS 2
OMIM	605145.0010	Disease	p.PRO5THR	CHONDROCALCINOSIS 2

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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