UniProtKB/Swiss-Prot P55851: Variant p.Arg76Gln

Dicarboxylate carrier SLC25A8
Gene: UCP2
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Variant information Variant position:

76 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 76 (R76Q, p.Arg76Gln). 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 UCP2 define the body mass index quantitative trait locus 4 (BMIQ4) [MIM:607447]. A common polymorphism in the promoter of UCP2 has been shown to be associated with a decreased risk of obesity in middle-aged individuals. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs45541732 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SAQYRGVMGTILTMVRTEGP R SLYNGLVAGLQRQMSFASVR 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                         SAQYRGVMGTILTMVRTEGPRSLYNGLVAGLQRQMSFASVR

                              SAQYRGVLCTILTMVRTEGPRSLYSGLVAGLQRQMSFASVR

Mouse                         SAQYRGVLGTILTMVRTEGPRSLYNGLVAGLQRQMSFASVR

Rat                           SAQYRGVLGTILTMVRTEGPRSLYNGLVAGLQRQMSFASVR

Pig                           SAQYRGVLGTILTMVRNEGPRSLYNGLVAGLQRQMSFASVR

Bovine                        SAQYRGVLGTILTMVRTEGPRSLYSGLVAGLQRQMSFASVR

Zebrafish                     ---YRGVFGTISTMVRVEGPRSLYSGLVAGLQRQMSFASVR

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 – 309	Dicarboxylate carrier SLC25A8
Topological domain	41 – 77	Mitochondrial matrix
Repeat	11 – 106	Solcar 1

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-55; GLN-76; GLN-154; GLY-268 AND CYS-282;

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.