UniProtKB/Swiss-Prot O14843: Variant p.Leu227Val

Free fatty acid receptor 3
Gene: FFAR3
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Variant information Variant position:

227 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 Leucine (L) to Valine (V) at position 227 (L227V, p.Leu227Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

The 6 amino acid differences at positions 44, 45, 174, 227, 256 and 346 between GPR42 and FFAR3, are polymorphic in the human population. The frequency of the probable inactive allele of FFAR3, with a Trp at position 174 was estimated to 1%. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1395869674 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LVWILGRGGSHRRQRRVAGL L AATLLNFLVCFGPYNVSHVV 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                         LVWILGRGGSHRRQRRVAGLLAATLLNFLVCFGPYNVSHVV

Mouse                         LVWILSRGASRRRRKRIMGLLAATLLIFFVCFGPYNMSHVV

Rat                           LVWILSQGASRRRRKRVMGLLVATLLIFFVCFGPYNMSHVV

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 – 346	Free fatty acid receptor 3
Transmembrane	223 – 243	Helical; Name=6
Mutagenesis	245 – 245	H -> A. Loss of SCFA-induced G protein-coupled receptor activity.
Helix	217 – 251

Literature citations
Sequence polymorphisms provide a common consensus sequence for GPR41 and GPR42.
Liaw C.W.; Connolly D.T.;
DNA Cell Biol. 28:555-560(2009)
Cited for: POLYMORPHISM; VARIANTS ARG-44; CYS-45; TRP-174; VAL-227; VAL-256 AND ASN-346;

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.