Results for the protein: Q15437

Results for the Protein: Q15437

20141794

10483

SEC23B

NCBI, UniProt

SC23B_HUMAN RecName: Full=Protein transport protein Sec23B; AltName: Full=SEC23-related protein B

Known Diseases associated with this Protein:
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
CONGENITAL DYSERYTHROPOIETIC ANEMIA 2 (CDA2)

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12

6

3

15

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Default View: Sec23_BS - pfam08033	Swiss-Prot Protein: Q15437 Identical to: NP_001166216, NP_116780, NP_116781, NP_006354 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_062306	Polymorphism	p.ALA524VAL	N/A
Swiss-Prot	VAR_062305	Polymorphism	p.ARG497CYS	N/A
Swiss-Prot	VAR_062309	Disease	p.ARG701CYS	Congenital dyserythropoietic anemia 2 (CDA2)
Swiss-Prot	VAR_062295	Polymorphism	p.ARG18HIS	N/A
Swiss-Prot	VAR_062298	Polymorphism	p.ARG313HIS	N/A
Swiss-Prot	VAR_062294	Disease	p.ARG14TRP	Congenital dyserythropoietic anemia 2 (CDA2)
Swiss-Prot	VAR_062307	Disease	p.ARG530TRP	Congenital dyserythropoietic anemia 2 (CDA2)
Swiss-Prot	VAR_062300	Disease	p.ASP348ALA	Congenital dyserythropoietic anemia 2 (CDA2)
Swiss-Prot	VAR_062297	Polymorphism	p.ASP239GLY	N/A
Swiss-Prot	VAR_062302	Polymorphism	p.GLN386ARG	N/A
Swiss-Prot	VAR_062296	Disease	p.GLU109LYS	Congenital dyserythropoietic anemia 2 (CDA2)
dbSNP	rs2273526	Polymorphism	p.HIS489GLN	N/A
Swiss-Prot	VAR_062299	Polymorphism	p.ILE318THR	N/A
Swiss-Prot	VAR_062301	Polymorphism	p.MET373VAL	N/A
dbSNP	rs17807673	Polymorphism	p.PRO433LEU	N/A
Swiss-Prot	VAR_062308	Disease	p.SER603LEU	Congenital dyserythropoietic anemia 2 (CDA2)
Swiss-Prot	VAR_062304	Polymorphism	p.TYR462CYS	N/A
dbSNP	rs41309927	Polymorphism	p.VAL426ILE	N/A
OMIM	610512.0006	Disease	p.ARG217TER	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM	610512.0004	Disease	p.ARG264TER	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM	610512.0005	Disease	p.ARG324TER	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM	610512.0002	Disease	p.ARG14TRP	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM	610512.0003	Disease	p.ARG530TRP	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM	610512.0001	Disease	p.GLU109LYS	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II

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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