Variant position: 540 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 874 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 GVWSNHGCALTRGNLTYSVC RCTHLTNFAILMQVVPLELAR
Mouse GVWSSQGCALTEGNLTYSVC HCTHLTNFAILMQVVPLKLTH
Bovine GIWSNQGCALTEGNLSYSIC RCTHLTNFAILMQVVPLELTR
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 – 874 Adhesion G-protein coupled receptor D1
26 – 570 Extracellular
507 – 556 GPS
533 – 533 N-linked (GlcNAc...) asparagine
543 – 543 H -> R. Does not affect membrane trafficking and basal activity.
545 – 545 T -> A. No effect on G-protein coupled receptor activity; does not affect subcellular location.
550 – 550 L -> A. Abolishes G-protein coupled receptor activity; does not affect subcellular location.
551 – 551 M -> A. Abolishes G-protein coupled receptor activity; does not affect subcellular location.
554 – 554 V -> A. Abolishes G-protein coupled receptor activity; does not affect subcellular location.
Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).
Fischer L.; Wilde C.; Schoeneberg T.; Liebscher I.;
BMC Genomics 17:609-609(2016)
Cited for: CHARACTERIZATION OF VARIANTS CYS-18; HIS-18; ASN-32; LYS-78; MET-82; CYS-85; ASP-89; MET-110; PHE-138; SER-140; ASP-141; LEU-145; TRP-150; SER-174; LYS-178; ILE-184; ARG-195; CYS-199; HIS-199; ASP-203; MET-209; ASN-226; TRP-233; THR-241; THR-242; ILE-245; ALA-257; GLN-259; TYR-265; ASN-268; ALA-270; MET-270; ALA-293; ARG-294; SER-308; PHE-318; ASN-349; SER-364; MET-369; SER-383; MET-393; GLN-397; CYS-399; PRO-405; PRO-410; SER-411; LYS-413; VAL-419; SER-425; THR-441; ASP-448; ASN-453; TYR-454; THR-458; ALA-464; SER-476; LEU-478; MET-484; ILE-485; GLY-498; SER-499; MET-508; LEU-523; SER-524; ALA-538; ILE-538; CYS-540; HIS-540; CYS-560; HIS-560; LEU-567; VAL-569; THR-589; MET-594; HIS-601; HIS-608; CYS-624; LYS-626; LEU-667; HIS-673; THR-695; ARG-699; VAL-720; THR-743; ARG-749; GLU-751; GLU-761; MET-777; VAL-779; MET-793; LYS-795; THR-816; MET-827; THR-831; THR-836; VAL-836; THR-851; HIS-868; ILE-869; ASN-870 AND MET-874;
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.