Results for the protein: Q13351

Results for the Protein: Q13351

2501699

10661

KLF1

NCBI, UniProt

KLF1_HUMAN RecName: Full=Krueppel-like factor 1; AltName: Full=Erythroid krueppel-like transcription factor; Short=EKLF

Known Diseases associated with this Protein:
  ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
  BLOOD GROUP--LUTHERAN INHIBITOR
  CONGENITAL DYSERYTHROPOIETIC ANEMIA 4 (CDA4)
  HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED

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Default View: ZnF_C2H2 - smart00355	Swiss-Prot Protein: Q13351 Identical to: NP_006554 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_C2H2	smart00355	5.1e-07	309	333
ZnF_C2H2	smart00355	4.3e-05	339	361

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058111	Polymorphism	p.ARG331GLY	N/A
Swiss-Prot	VAR_058109	Polymorphism	p.ARG328HIS	N/A
Swiss-Prot	VAR_058110	Polymorphism	p.ARG328LEU	N/A
Swiss-Prot	VAR_064901	Disease	p.GLU325LYS	Congenital dyserythropoietic anemia 4 (CDA4)
Swiss-Prot	VAR_058108	Polymorphism	p.HIS299TYR	N/A
dbSNP	rs2072596	Polymorphism	p.PHE182LEU	N/A
dbSNP	rs117351327	Polymorphism	p.PRO109SER	N/A
dbSNP	rs2072597	Polymorphism	p.SER102PRO	N/A
OMIM	600599.0006	Disease	p.GLU325LYS	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
OMIM	600599.0008	Disease	p.HIS357GLN	BLOOD GROUP--LUTHERAN INHIBITOR
OMIM	600599.0004	Disease	p.HIS299TYR	BLOOD GROUP--LUTHERAN INHIBITOR
OMIM	600599.0007	Disease	p.LEU326ARG	BLOOD GROUP--LUTHERAN INHIBITOR
OMIM	600599.0005	Disease	p.LYS288TER	HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
OMIM	600599.0003	Disease	p.LYS292TER	BLOOD GROUP--LUTHERAN INHIBITOR
OMIM	600599.0009	Disease	p.TYR197TER	BLOOD GROUP--LUTHERAN INHIBITOR

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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