Variant position: 741 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1221 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 ASVILPPNLLENLSPEDSVL VRRAQFTFFNKTGLFQDVGPQ
Mouse ASVILPPNLLENLSPEDSVL VRRAQFTFFNKTGLFQDVGSQ
Zebrafish AVVTLPPTLLQNLSLSQIEK VSRINFMFFGRTGLFQDHQNN
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
38 – 1221 Adhesion G-protein coupled receptor G6
38 – 840 ADGRG6 N-terminal fragment
38 – 862 Extracellular
41 – 852 Inhibits receptor signaling in absence of type IV collagen
473 – 837 Mediates interaction with laminin-2
750 – 750 N-linked (GlcNAc...) asparagine
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Ravenscroft G.; Nolent F.; Rajagopalan S.; Meireles A.M.; Paavola K.J.; Gaillard D.; Alanio E.; Buckland M.; Arbuckle S.; Krivanek M.; Maluenda J.; Pannell S.; Gooding R.; Ong R.W.; Allcock R.J.; Carvalho E.D.; Carvalho M.D.; Kok F.; Talbot W.S.; Melki J.; Laing N.G.;
Am. J. Hum. Genet. 96:955-961(2015)
Cited for: FUNCTION; INVOLVEMENT IN LCCS9; VARIANTS LCCS9 GLU-741 AND GLU-769; CHARACTERIZATION OF VARIANT LCCS9 GLU-741;
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.