Variant position: 130 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 TARLYFCE-DRKAEPEGLRRL HRAGVQIAIMTFKDYFYCWNT
Mouse TARLYFCE-DRKAEPEGLRRL HRAGVQIGIMTFKDYFYCWN
Bovine TARLYFCDKERKAEPEGLRRL HRAGVQIAIMTFKDYFYCWN
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
112 – 112 R -> D. Greatly reduced nuclear import; when associated with A-193.
122 – 132
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
Ouadani H.; Ben-Mustapha I.; Ben-ali M.; Ben-khemis L.; Largueche B.; Boussoffara R.; Maalej S.; Fetni I.; Hassayoun S.; Mahfoudh A.; Mellouli F.; Yalaoui S.; Masmoudi H.; Bejaoui M.; Barbouche M.R.;
Cited for: VARIANTS HIGM2 HIS-31 AND PRO-130;
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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