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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6QNK2: Variant p.Val485Ile

Adhesion G-protein coupled receptor D1
Gene: ADGRD1
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Variant information Variant position: help 485
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 485 (V485I, p.Val485Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help Does not affect subcellular location; does not change G-protein coupled receptor activity.
Other resources: help


Sequence information Variant position: help 485
Protein sequence length: help 874
Location on the sequence: help LEVSPPPTLSQNLSGSPLIT V HLKHRLTRKQHSEATNSSNR
Residue conservation: help 
Human                         LEVSPPPTLSQNLSGSPLITVHLKHRLTRKQHSEATNSSNR

Mouse                         LEVSPPPTLSQNLSGSPLITVHLRHKLTQKQYSDATNESNR

Bovine                        LEVSPTPKLSQNLSGSPLITVHLRHHLTQRQYTEATNESNR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 874 Adhesion G-protein coupled receptor D1
Topological domain 26 – 570 Extracellular
Domain 371 – 557 GAIN-B
Glycosylation 476 – 476 N-linked (GlcNAc...) asparagine
Glycosylation 501 – 501 N-linked (GlcNAc...) asparagine
Alternative sequence 482 – 491 LITVHLKHRL -> MHRVCFLSFQ. In isoform 3.



Literature citations
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;
Disclaimer: 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.