Variant position: 80 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 LFLRYISDWDLDPGRCYRVT WFTSWSPCYDCARHVADFLRG
Mouse LFLRYISDWDLDPGRCYRVT WFTSWSPCYDCARHVAEFLRW
Bovine LFLRYISDWDLDPGRCYRVT WFTSWSPCYDCARHVADFLRG
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
87 – 87 Zinc; catalytic
90 – 90 Zinc; catalytic
76 – 84
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P.; Muto T.; Levy Y.; Geissmann F.; Plebani A.; Sanal O.; Catalan N.; Forveille M.; Dufourcq-Lagelouse R.; Gennery A.; Tezcan I.; Ersoy F.; Kayserili H.; Ugazio A.G.; Brousse N.; Muramatsu M.; Notarangelo L.D.; Kinoshita K.; Honjo T.; Fischer A.; Durandy A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS HIGM2 TRP-24; ARG-80; PRO-106; VAL-139 AND SER-151;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.