Variant position: 310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 335 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 AYDTLIKDLKKANLCTLAEK IQTIILKDITSDSENSNFRNE
Rhesus macaque ACDTLIKGLKTADLCTLAEK IHAVILKDITSDTENSNFGNE
Mouse AYQDLIKGLKKAECRRTLDK FQDMVQKDLGKSTPDTGNENE
Rat ACQALIQGLRKANRCDIAEE IQAMVWEDHENSISNSRNENE
Pig AYCTLIQGLRKAKLSALADK INDIVQKDVTSEQENANSQNE
Bovine AYCTLTKSLPKA----LAEK ICDIVMKDITNERENANLQNE
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
26 – 335 Tumor necrosis factor receptor superfamily member 6
191 – 335 Cytoplasmic
230 – 314 Death
212 – 317 Interaction with HIPK3
87 – 335 Missing. In isoform 3.
104 – 335 Missing. In isoform 2.
133 – 335 Missing. In isoform 5.
150 – 335 Missing. In isoform 4.
221 – 335 Missing. In isoform 7.
291 – 291 Y -> D. Decreased interaction with FADD.
313 – 313 I -> D. Constitutive activation. Promotes apoptosis, both in the presence and in the absence of stimulation by a ligand.
287 – 319
Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Sneller M.C.; Wang J.; Dale J.K.; Strober W.; Middelton L.A.; Choi Y.; Fleisher T.A.; Lim M.S.; Jaffe E.S.; Puck J.M.; Lenardo M.J.; Straus S.E.;
Cited for: VARIANTS ALPS1A ASP-257 AND SER-310;
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