Results for the protein: Q14623

Results for the Protein: Q14623

33112634

3549

IHH

NCBI, UniProt

IHH_HUMAN RecName: Full=Indian hedgehog protein; Short=IHH; AltName: Full=HHG-2; Contains: RecName: Full=Indian hedgehog protein N-product; Contains: RecName: Full=Indian hedgehog protein C-product; Flags: Precursor

Known Diseases associated with this Protein:
  ACROCAPITOFEMORAL DYSPLASIA
  ACROCAPITOFEMORAL DYSPLASIA (ACFD)
  BRACHYDACTYLY A1 (BDA1)
  BRACHYDACTYLY, TYPE A1

16

0

10

0

6

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Default View: HH_signal - pfam01085 Hint - pfam01079 HintN - smart00306 Hint - cd00081 HintC - smart00305	Swiss-Prot Protein: Q14623 Identical to: NP_002172 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HH_signal	pfam01085	2.3e-113	44	189
Hint	pfam01079	6.4e-116	192	397
HintN	smart00306	8.3e-29	202	308
HintC	smart00305	4.7e-06	309	353

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015984	Disease	p.ASP100ASN	Brachydactyly A1 (BDA1)
Swiss-Prot	VAR_015983	Disease	p.ASP100GLU	Brachydactyly A1 (BDA1)
Swiss-Prot	VAR_015985	Disease	p.GLU131LYS	Brachydactyly A1 (BDA1)
Swiss-Prot	VAR_015982	Disease	p.GLU95LYS	Brachydactyly A1 (BDA1)
Swiss-Prot	VAR_015981	Disease	p.PRO46LEU	Acrocapitofemoral dysplasia (ACFD)
Swiss-Prot	VAR_015986	Disease	p.VAL190ALA	Acrocapitofemoral dysplasia (ACFD)
OMIM	600726.0010	Disease	p.ARG128GLN	BRACHYDACTYLY, TYPE A1
OMIM	600726.0004	Disease	p.ASP100ASN	BRACHYDACTYLY, TYPE A1
OMIM	600726.0003	Disease	p.ASP100GLU	BRACHYDACTYLY, TYPE A1
OMIM	600726.0007	Disease	p.GLU95GLY	BRACHYDACTYLY, TYPE A1
OMIM	600726.0002	Disease	p.GLU131LYS	BRACHYDACTYLY, TYPE A1
OMIM	600726.0001	Disease	p.GLU95LYS	BRACHYDACTYLY, TYPE A1
OMIM	600726.0005	Disease	p.PRO46LEU	ACROCAPITOFEMORAL DYSPLASIA
OMIM	600726.0011	Disease	p.THR130ASN	BRACHYDACTYLY, TYPE A1
OMIM	600726.0008	Disease	p.THR154ILE	BRACHYDACTYLY, TYPE A1
OMIM	600726.0006	Disease	p.VAL190ALA	ACROCAPITOFEMORAL DYSPLASIA

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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