Results for the protein: Q9GZX7

Results for the Protein: Q9GZX7

23813666

57379

AICDA

NCBI, UniProt

AICDA_HUMAN RecName: Full=Single-stranded DNA cytosine deaminase; AltName: Full=Activation-induced cytidine deaminase; AltName: Full=Cytidine aminohydrolase

Known Diseases associated with this Protein:
IMMUNODEFICIENCY WITH HYPER-IGM 2 (HIGM2)
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2

12

1

7

0

6

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Default View: cytidine_deaminase - cd01283 APOBEC_N - pfam08210 APOBEC_C - pfam05240	Swiss-Prot Protein: Q9GZX7 Identical to: NP_065712 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
APOBEC_N	pfam08210	1.5e-65	4	115
APOBEC_C	pfam05240	1.1e-29	119	173

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014091	Polymorphism	p.ARG25CYS	N/A
Swiss-Prot	VAR_013774	Disease	p.ARG24TRP	Immunodeficiency with hyper-IgM 2 (HIGM2)
Swiss-Prot	VAR_013776	Disease	p.LEU106PRO	Immunodeficiency with hyper-IgM 2 (HIGM2)
Swiss-Prot	VAR_013777	Disease	p.MET139VAL	Immunodeficiency with hyper-IgM 2 (HIGM2)
Swiss-Prot	VAR_013778	Disease	p.PHE151SER	Immunodeficiency with hyper-IgM 2 (HIGM2)
Swiss-Prot	VAR_013775	Disease	p.TRP80ARG	Immunodeficiency with hyper-IgM 2 (HIGM2)
OMIM	605257.0001	Disease	p.ARG24TRP	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0006	Disease	p.CYS147TER	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0004	Disease	p.LEU106PRO	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0005	Disease	p.MET139VAL	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0007	Disease	p.PHE151SER	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0003	Disease	p.TRP80ARG	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
OMIM	605257.0002	Disease	p.TRP68TER	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

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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