Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 198 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RDSATSFSLDFGYLRNKNGC HVELLFLRYISDWDLDPGRCY
Mouse RDSATSCSLDFGHLRNKSGC HVELLFLRYISDWDLDPGRCY
Bovine RDSPTSFSLDFGHLRNKAGC HVELLFLRYISDWDLDPGRCY
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 198 Single-stranded DNA cytosine deaminase
23 – 129 CMP/dCMP-type deaminase
58 – 58 Proton donor
56 – 56 Zinc; catalytic
38 – 38 Phosphoserine; by PKA
38 – 38 S -> A. Loss of phosphorylation. Impaired class-switch recombination activity. No effect on interaction with CTNNBL1.
38 – 38 S -> D. No effect on interaction with CTNNBL1.
50 – 50 R -> G. Some reduced nuclear import; when associated with A-193.
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency.
Quartier P.; Bustamante J.; Sanal O.; Plebani A.; Debre M.; Deville A.; Litzman J.; Levy J.; Fermand J.P.; Lane P.; Horneff G.; Aksu G.; Yalcin I.; Davies G.; Tezcan I.; Ersoy F.; Catalan N.; Imai K.; Fischer A.; Durandy A.;
Clin. Immunol. 110:22-29(2004)
Cited for: VARIANTS HIGM2 TRP-24; TYR-56; ARG-80; ARG-87; PRO-106; VAL-139; SER-151 AND SER-174;
Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.
Ouadani H.; Ben-Mustapha I.; Ben-Ali M.; Largueche B.; Jovanic T.; Garcia S.; Arcangioli B.; Elloumi-Zghal H.; Fathallah D.; Hachicha M.; Masmoudi H.; Rougeon F.; Barbouche M.R.;
Mol. Immunol. 79:77-82(2016)
Cited for: CHARACTERIZATION OF VARIANTS HIGM2 TYR-56 AND PRO-130; FUNCTION;
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