Results for the protein: P56178

Results for the Protein: P56178

12644329

1749

DLX5

NCBI, UniProt

DLX5_HUMAN RecName: Full=Homeobox protein DLX-5

Known Diseases associated with this Protein:
  RECESSIVE (1 FAMILY)
  SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL
  SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE (SHFM1D)

2

1

1

1

1

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Default View: DLL_N - pfam12413 HOX - smart00389 homeodomain - cd00086	Swiss-Prot Protein: P56178 Identical to: NP_005212 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DLL_N	pfam12413	1.1e-39	32	118
HOX	smart00389	2.7e-24	138	193

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067413	Disease	p.GLN178PRO	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)
dbSNP	rs35273378	Polymorphism	p.SER234ARG	N/A
OMIM	600028.0001	Disease	p.GLN178PRO	SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL\|\|RECESSIVE (1 family)

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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