UniProtKB/Swiss-Prot Q9HB90: Variant p.Asp116Gly

Ras-related GTP-binding protein C
Gene: RRAGC
Feedback?

Variant information Variant position:

116 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 Aspartate (D) to Glycine (G) at position 116 (D116G, p.Asp116Gly). 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 acidic (D) to glycine (G) 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
Variant description:

Found in patients with follicular lymphoma; increased activation of mTORC1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1169309358 [ dbSNP | Ensembl ]

Sequence information Variant position:

116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

399 The length of the canonical sequence.
Location on the sequence:

TNKIYKDDISNSSFVNFQIW D FPGQMDFFDPTFDYEMIFRG 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                         TNKIYKDDISNSSFVNFQIWDFPGQMDFFDPTFDYEMIFRG

Mouse                         TNKIYKDDISNSSFVNFQIWDFPGQMDFFDPTFDYEMIFRG

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	2 – 399	Ras-related GTP-binding protein C
Binding site	96 – 96
Binding site	96 – 96
Modified residue	96 – 96	Phosphothreonine
Mutagenesis	120 – 120	Q -> L. Maintains GTP-bound state, leading to inactivate mTORC1. Decreased RPTOR-binding.
Beta strand	112 – 116

Literature citations
Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma.
Okosun J.; Wolfson R.L.; Wang J.; Araf S.; Wilkins L.; Castellano B.M.; Escudero-Ibarz L.; Al Seraihi A.F.; Richter J.; Bernhart S.H.; Efeyan A.; Iqbal S.; Matthews J.; Clear A.; Guerra-Assuncao J.A.; Boedoer C.; Quentmeier H.; Mansbridge C.; Johnson P.; Davies A.; Strefford J.C.; Packham G.; Barrans S.; Jack A.; Du M.Q.; Calaminici M.; Lister T.A.; Auer R.; Montoto S.; Gribben J.G.; Siebert R.; Chelala C.; Zoncu R.; Sabatini D.M.; Fitzgibbon J.;
Nat. Genet. 48:183-188(2016)
Cited for: VARIANTS LNGODS ASN-90; ARG-115 AND LEU-118; CHARACTERIZATION OF VARIANTS LNGODS ASN-90; ARG-115 AND LEU-118; CHARACTERIZATION OF ARG-74; ASN-75; PHE-75; PHE-99 AND GLY-116;

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.