Variant position: 962 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1130 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 SSSEDTAGELPAVRDLKKLE FALGPVSGPQAFPKLVRILTA
Mouse NPSEDAAKDLPAIRDLKKLE FALGPILGPQAFPTLAKILPA
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 – 1130 MHC class II transactivator
931 – 1128 Missing. In isoform 2 and isoform 4.
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.
Quan V.; Towey M.; Sacks S.; Kelly A.P.;
Cited for: VARIANT BLS2 GROUP A SER-962;
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