Results for the protein: O00294

Results for the Protein: O00294

206729948

7287

TULP1

NCBI, UniProt

TULP1_HUMAN RecName: Full=Tubby-related protein 1; AltName: Full=Tubby-like protein 1

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 15
  LEBER CONGENITAL AMAUROSIS 15 (LCA15)
  RETINITIS PIGMENTOSA 14
  RETINITIS PIGMENTOSA 14 (RP14)

20

4

8

3

13

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Default View: Tub - pfam01167	Swiss-Prot Protein: O00294 Identical to: NP_003313 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_008281	Polymorphism	p.ALA496THR	N/A
Swiss-Prot	VAR_008275	Disease	p.ALA245VAL	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_008278	Disease	p.ARG378HIS	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_007941	Disease	p.ARG420PRO	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_065501	Disease	p.ARG400TRP	Leber congenital amaurosis 15 (LCA15)
Swiss-Prot	VAR_065502	Disease	p.ARG482TRP	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_065500	Disease	p.GLY368TRP	Leber congenital amaurosis 15 (LCA15)
Swiss-Prot	VAR_007942	Disease	p.ILE459LYS	Retinitis pigmentosa 14 (RP14)
dbSNP	rs2064317	Polymorphism	p.ILE259THR	N/A
Swiss-Prot	VAR_008280	Disease	p.LYS489ARG	Retinitis pigmentosa 14 (RP14)
dbSNP	rs2064318	Polymorphism	p.LYS261ASN	N/A
Swiss-Prot	VAR_008277	Disease	p.LYS261THR	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_007943	Disease	p.PHE491LEU	Retinitis pigmentosa 14 (RP14)
Swiss-Prot	VAR_037584	Disease	p.PHE382SER	Retinitis pigmentosa 14 (RP14)
dbSNP	rs7764472	Polymorphism	p.THR67ARG	N/A
Swiss-Prot	VAR_008279	Disease	p.THR454MET	Retinitis pigmentosa 14 (RP14)
OMIM	602280.0001	Disease	p.ARG420PRO	RETINITIS PIGMENTOSA 14
OMIM	602280.0011	Disease	p.ARG400TRP	LEBER CONGENITAL AMAUROSIS 15
OMIM	602280.0007	Disease	p.ARG482TRP	RETINITIS PIGMENTOSA 14
OMIM	602280.0010	Disease	p.GLU402TER	LEBER CONGENITAL AMAUROSIS 15
OMIM	602280.0012	Disease	p.GLY368TRP	LEBER CONGENITAL AMAUROSIS 15
OMIM	602280.0003	Disease	p.ILE459LYS	RETINITIS PIGMENTOSA 14
OMIM	602280.0002	Disease	p.PHE491LEU	RETINITIS PIGMENTOSA 14
OMIM	602280.0006	Disease	p.PHE382SER	RETINITIS PIGMENTOSA 14

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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