Results for the protein: Q8IWY9

Results for the Protein: Q8IWY9

296439465

146059

CDAN1

NCBI, UniProt

CDAN1_HUMAN RecName: Full=Codanin-1

Known Diseases associated with this Protein:
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
CONGENITAL DYSERYTHROPOIETIC ANEMIA 1 (CDA1)

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10

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Default View:	Swiss-Prot Protein: Q8IWY9 Identical to: NP_612486 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	rs73410959	Polymorphism	p.ALA148VAL	N/A
dbSNP	rs8023524	Polymorphism	p.ARG891CYS	N/A
Swiss-Prot	VAR_017224	Disease	p.ARG1042TRP	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017221	Disease	p.ARG714TRP	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017218	Disease	p.ASN599SER	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017225	Disease	p.ASP1043VAL	Congenital dyserythropoietic anemia 1 (CDA1)
dbSNP	rs12917189	Polymorphism	p.GLN596ARG	N/A
Swiss-Prot	VAR_059602	Polymorphism	p.GLN107LEU	N/A
Swiss-Prot	VAR_017220	Disease	p.GLU698LYS	Congenital dyserythropoietic anemia 1 (CDA1)
dbSNP	rs61747153	Polymorphism	p.GLY657SER	N/A
Swiss-Prot	VAR_017222	Disease	p.PHE868ILE	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017226	Disease	p.PRO1130LEU	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017219	Disease	p.PRO672LEU	Congenital dyserythropoietic anemia 1 (CDA1)
Swiss-Prot	VAR_017223	Disease	p.VAL869MET	Congenital dyserythropoietic anemia 1 (CDA1)
OMIM	607465.0001	Disease	p.ARG1040TRP	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
OMIM	607465.0003	Disease	p.ASN598SER	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
OMIM	607465.0005	Disease	p.PHE866ILE	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
OMIM	607465.0002	Disease	p.PRO1129LEU	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
OMIM	607465.0004	Disease	p.PRO671LEU	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I

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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