UniProtKB/Swiss-Prot P37231: Variant p.Gln314Pro

Peroxisome proliferator-activated receptor gamma
Gene: PPARG
Feedback?

Variant information Variant position:

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

US 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 Glutamine (Q) to Proline (P) at position 314 (Q314P, p.Gln314Pro). 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 polar (Q) to medium size and hydrophobic (P) 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:

In colon cancer; sporadic; somatic mutation; loss of ligand-binding. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121909242 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HITPLQEQSKEVAIRIFQGC Q FRSVEAVQEITEYAKSIPGF 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                         HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGF

                              HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGF

Rhesus macaque                HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGF

Mouse                         HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGF

Rat                           HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGF

Pig                           HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGF

Bovine                        HISPLQEPSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGF

Rabbit                        HITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGF

Xenopus laevis                E--PRAEQGGGDSNLPALSVALRG--GVREITEFAKNIPGF

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	1 – 505	Peroxisome proliferator-activated receptor gamma
Domain	238 – 503	NR LBD
Binding site	314 – 317
Alternative sequence	214 – 504	Missing. In isoform 3.
Helix	305 – 329

Literature citations
Loss-of-function mutations in PPAR-gamma associated with human colon cancer.
Sarraf P.; Mueller E.; Smith W.M.; Wright H.M.; Kum J.B.; Aaltonen L.A.; de la Chapelle A.; Spiegelman B.M.; Eng C.;
Mol. Cell 3:799-804(1999)
Cited for: VARIANTS COLON CANCER PRO-314 AND HIS-316; VARIANT ALA-12;

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.