Results for the protein: P06400

Results for the Protein: P06400

132164

5925

RB1

NCBI, UniProt

RB_HUMAN RecName: Full=Retinoblastoma-associated protein; AltName: Full=p105-Rb; AltName: Full=pRb; Short=Rb; AltName: Full=pp110

Known Diseases associated with this Protein:
  CHILDHOOD CANCER RETINOBLASTOMA (RB)
  RETINOBLASTOMA
  RETINOBLASTOMA, TRILATERAL
  SMALL CELL CANCER OF THE LUNG, SOMATIC

32

8

10

1

29

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Default View: DUF3452 - pfam11934 RB_A - pfam01858 RB_B - pfam01857 CYCLIN - cd00043 CYCLIN - smart00385 Rb_C - pfam08934	Swiss-Prot Protein: P06400 Identical to: NP_000312 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RB_A	pfam01858	4.5e-129	373	573
RB_B	pfam01857	2.2e-76	645	766
DUF3452	pfam11934	2.4e-31	94	229
CYCLIN	smart00385	3.1e-10	660	761
Rb_C	pfam08934	3.4e-107	768	927

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4151539	Polymorphism	p.ALA525GLY	N/A
Swiss-Prot	VAR_005580	Disease	p.ALA635PRO	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005575	Disease	p.ARG358GLN	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_010046	Disease	p.ARG358GLY	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_011580	Disease	p.ARG500GLY	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005582	Disease	p.ARG661TRP	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_051909	Polymorphism	p.ASN133HIS	N/A
Swiss-Prot	VAR_005588	Disease	p.ASN803LYS	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_051911	Polymorphism	p.ASP697GLU	N/A
Swiss-Prot	VAR_005587	Disease	p.CYS712ARG	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005586	Disease	p.CYS706TYR	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_019379	Polymorphism	p.GLN436LYS	N/A
Swiss-Prot	VAR_005585	Disease	p.GLN685PRO	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005573	Disease	p.GLU137ASP	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005572	Disease	p.GLU72GLN	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_034442	Polymorphism	p.GLU746GLY	N/A
Swiss-Prot	VAR_010045	Polymorphism	p.GLY310GLU	N/A
Swiss-Prot	VAR_005584	Disease	p.HIS673PRO	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005578	Disease	p.HIS549TYR	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005574	Disease	p.ILE185THR	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_051910	Polymorphism	p.LEU569PHE	N/A
Swiss-Prot	VAR_010050	Disease	p.LEU657PRO	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005583	Disease	p.LEU662PRO	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_010049	Disease	p.LYS530ARG	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_010048	Disease	p.LYS447GLN	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_011581	Disease	p.LYS616GLU	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005576	Disease	p.MET457ARG	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_005579	Disease	p.SER567LEU	Childhood cancer retinoblastoma (RB)
Swiss-Prot	VAR_069376	Polymorphism	p.TYR173HIS	N/A
Swiss-Prot	VAR_005581	Disease	p.VAL654GLU	Childhood cancer retinoblastoma (RB)
OMIM	614041.0008	Disease	p.ARG358TER	RETINOBLASTOMA
OMIM	614041.0003	Disease	p.ARG445TER	RETINOBLASTOMA
OMIM	614041.0022	Disease	p.ARG556TER	RETINOBLASTOMA, TRILATERAL
OMIM	614041.0005	Disease	p.ARG787TER	RETINOBLASTOMA
OMIM	614041.0019	Disease	p.ARG661TRP	RETINOBLASTOMA
OMIM	614041.0024	Disease	p.CYS712ARG	RETINOBLASTOMA
OMIM	614041.0020	Disease	p.GLN675TER	RETINOBLASTOMA
OMIM	614041.0010	Disease	p.GLU748TER	SMALL CELL CANCER OF THE LUNG, SOMATIC
OMIM	614041.0004	Disease	p.SER567LEU	RETINOBLASTOMA
OMIM	614041.0026	Disease	p.TYR606TER	RETINOBLASTOMA

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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