Variant position: 28 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 LPLVLTSVARLSSKSVNAQV TDINSKGLELRKTVTTVETQN
Rhesus macaque LPLVLTSVVRLLSKCVNAQV TDISSKGFELRKIVTTIETQN
Mouse LPLVL---AGSQLR-VHTQG TNSISESLKLRRRVRETDKNC
Rat LPLVL---AGPELN-VRMQG TDSIFEGLELKRSVRETDNNC
Pig LSLVFTCIAGPLSKGDDAQV TDPDSEMVKLN--ITKRESEC
Bovine LSLIFISVSGPLSKGENAHM AGINSEGLKLN--ITEANS-C
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
26 – 173 Extracellular
28 – 28 O-linked (GalNAc...) threonine
Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.
Pensati L.; Costanzo A.; Ianni A.; Accapezzato D.; Iorio R.; Natoli G.; Nisini R.; Almerighi C.; Balsano C.; Vajro P.; Vegnente A.; Levrero M.;
Cited for: VARIANT ALPS1A ALA-28;
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