Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 281 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 VINETGLYFVYSKVYFRGQS CNNLPLSHKVYMRNSKYPQDL
Rhesus macaque VINETGLYFVYSKVYFRGQS CTNLPLSHKVYMRNSKYPQDL
Mouse VINETGLYFVYSKVYFRGQS CNNQPLNHKVYMRNSKYPEDL
Rat VINEAGLYFVYSKVYFRGQS CNSQPLSHKVYMRNFKYPGDL
Pig VINDTGLYFVYSKVYFRGQY CNNQPLSHKVYTRNSRYPQDL
Cat VINDTGMYFVYSKVNFRGQS CNNQPLNHKVYMRNSKYPQDL
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 – 281 Tumor necrosis factor ligand superfamily member 6, membrane form
130 – 281 Tumor necrosis factor ligand superfamily member 6, soluble form
103 – 281 Extracellular
184 – 184 N-linked (GlcNAc...) asparagine
202 – 233
128 – 281 Missing. In isoform 2.
206 – 206 P -> DFR. Lowers binding to TNFRSF6 and reduces cytotoxicity more than 100-fold.
218 – 218 Y -> FR. Lowers binding to TNFRSF6 and abolishes cytotoxicity.
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.
Ruiz-Garcia R.; Mora S.; Lozano-Sanchez G.; Martinez-Lostao L.; Paz-Artal E.; Ruiz-Contreras J.; Anel A.; Gonzalez-Granado L.I.; Moreno-Perez D.; Allende L.M.;
Pediatr. Res. 78:603-608(2015)
Cited for: VARIANT ALPS1B SER-202; CHARACTERIZATION OF VARIANT ALPS1B SER-202;
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.