Results for the protein: P39019

Results for the Protein: P39019

730640

6223

RPS19

NCBI, UniProt

RS19_HUMAN RecName: Full=40S ribosomal protein S19

Known Diseases associated with this Protein:
DIAMOND-BLACKFAN ANEMIA 1
DIAMOND-BLACKFAN ANEMIA 1 (DBA1)

28

0

5

0

23

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Default View:	Swiss-Prot Protein: P39019 Identical to: NP_001013 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_018443	Disease	p.ALA61GLU	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_046145	Disease	p.ALA17PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055440	Disease	p.ALA57PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055445	Disease	p.ALA135THR	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018437	Disease	p.ARG56GLN	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018444	Disease	p.ARG62GLN	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018445	Disease	p.ARG101HIS	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_006924	Disease	p.ARG62TRP	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018446	Disease	p.GLY120ARG	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055444	Disease	p.GLY127GLU	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_046149	Disease	p.LEU131ARG	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_046146	Disease	p.LEU18ARG	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018447	Disease	p.LEU131PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018439	Disease	p.LEU18PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055441	Disease	p.LEU64PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055438	Disease	p.PHE21SER	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018440	Disease	p.PRO47LEU	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_046148	Disease	p.SER59PHE	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018442	Disease	p.THR55MET	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055442	Disease	p.THR76PRO	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018441	Disease	p.TRP52ARG	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_055439	Disease	p.TRP52CYS	Diamond-Blackfan anemia 1 (DBA1)
Swiss-Prot	VAR_018438	Disease	p.VAL15PHE	Diamond-Blackfan anemia 1 (DBA1)
OMIM	603474.0004	Disease	p.ARG84TER	DIAMOND-BLACKFAN ANEMIA 1
OMIM	603474.0001	Disease	p.ARG94TER	DIAMOND-BLACKFAN ANEMIA 1
OMIM	603474.0002	Disease	p.ARG62TRP	DIAMOND-BLACKFAN ANEMIA 1
OMIM	603474.0008	Disease	p.GLY127GLN	DIAMOND-BLACKFAN ANEMIA 1
OMIM	603474.0003	Disease	p.TRP33TER	DIAMOND-BLACKFAN ANEMIA 1

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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