Home  |  Contact

UniProtKB/Swiss-Prot Q86SQ4: Variant p.Val769Glu

Adhesion G-protein coupled receptor G6
Gene: ADGRG6
Variant information

Variant position:  769
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Glutamate (E) at position 769 (V769E, p.Val769Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (V) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:26004201}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LCCS9.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  769
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1221
The length of the canonical 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.




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.

Chain 38 – 1221 Adhesion G-protein coupled receptor G6
Chain 38 – 840 ADGRG6 N-terminal fragment
Topological domain 38 – 862 Extracellular
Region 41 – 852 Inhibits receptor signaling in absence of type IV collagen
Region 473 – 837 Mediates interaction with laminin-2
Glycosylation 750 – 750 N-linked (GlcNAc...) asparagine
Glycosylation 776 – 776 N-linked (GlcNAc...) asparagine

Literature citations

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)

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.