Results for the protein: O43593

Results for the Protein: O43593

115502396

55806

HR

NCBI, UniProt

HAIR_HUMAN RecName: Full=Protein hairless

Known Diseases associated with this Protein:
  ALOPECIA UNIVERSALIS CONGENITA
  ALOPECIA UNIVERSALIS CONGENITA (ALUNC)
  ATRICHIA WITH PAPULAR LESIONS

8

12

5

10

5

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Default View: JmjC - smart00558	Swiss-Prot Protein: O43593 Identical to: NP_005135 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 ↕
dbSNP	rs115643651	Polymorphism	p.ALA503THR	N/A
Swiss-Prot	VAR_005265	Polymorphism	p.ARG620GLN	N/A
Swiss-Prot	VAR_035927	Polymorphism	p.ARG633GLN	N/A
Swiss-Prot	VAR_016222	Disease	p.ASP1012ASN	Alopecia universalis congenita (ALUNC)
dbSNP	rs73549523	Polymorphism	p.CYS397TYR	N/A
dbSNP	rs74596676	Polymorphism	p.GLN528ARG	N/A
dbSNP	rs75362423	Polymorphism	p.GLU636GLY	N/A
dbSNP	rs12675375	Polymorphism	p.GLY337ASP	N/A
dbSNP	rs56140348	Polymorphism	p.LEU526PRO	N/A
dbSNP	rs73549525	Polymorphism	p.PRO63ARG	N/A
dbSNP	rs77758962	Polymorphism	p.PRO319LEU	N/A
Swiss-Prot	VAR_027807	Polymorphism	p.PRO924LEU	N/A
dbSNP	rs11990451	Polymorphism	p.SER911ARG	N/A
dbSNP	rs7014851	Disease	p.THR1022ALA	Alopecia universalis congenita (ALUNC)
Swiss-Prot	VAR_005267	Disease	p.VAL1136ASP	Alopecia universalis congenita (ALUNC)
OMIM	602302.0007	Disease	p.ARG613TER	ATRICHIA WITH PAPULAR LESIONS
OMIM	602302.0012	Disease	p.ASP1012ASN	ALOPECIA UNIVERSALIS CONGENITA
OMIM	602302.0011	Disease	p.GLN1176TER	ATRICHIA WITH PAPULAR LESIONS
OMIM	602302.0001	Disease	p.THR1022ALA	ALOPECIA UNIVERSALIS CONGENITA
OMIM	602302.0002	Disease	p.VAL1136ASP	ALOPECIA UNIVERSALIS CONGENITA

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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