UniProtKB/Swiss-Prot Q86SQ4: Variant p.Arg1057Gln

Adhesion G-protein coupled receptor G6
Gene: ADGRG6
Feedback?

Variant information Variant position:

1057 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 1057 (R1057Q, p.Arg1057Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Polymorphism:

Genetic variations in ADGRG6 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits. Additional information on the polymorphism described.
Variant description:

Found in patients with aggressive periodontitis; impairs cAMP production; abrogates osteoblastic differentiation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs536714306 [ dbSNP | Ensembl ]

Sequence information Variant position:

1057 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:

IAMFIVVMVQICGRNGKRSN R TLREEVLRNLRSVVSLTFLL 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                         IAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLL

Mouse                         VAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLL

Zebrafish                     VAMFIVVMIQICGRNGKRSNRTLREDILRNLRSVVSLTFLL

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
Chain	38 – 1221	Adhesion G-protein coupled receptor G6
Chain	841 – 1221	ADGRG6 C-terminal fragment
Topological domain	1046 – 1069	Cytoplasmic

Literature citations
A Putative association of a single nucleotide polymorphism in GPR126 with aggressive periodontitis in a japanese population.
Kitagaki J.; Miyauchi S.; Asano Y.; Imai A.; Kawai S.; Michikami I.; Yamashita M.; Yamada S.; Kitamura M.; Murakami S.;
PLoS ONE 11:E0160765-E0160765(2016)
Cited for: VARIANT GLN-1057; CHARACTERIZATION OF VARIANT GLN-1057;

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.