UniProtKB/Swiss-Prot P02818: Variant p.Arg94Gln

Osteocalcin
Gene: BGLAP
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Variant information Variant position:

94 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 94 (R94Q, p.Arg94Gln). 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
Other resources:

Links to websites of interest for the variant.

Variant rs34702397 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

CELNPDCDELADHIGFQEAY R RFYGPV 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                         CELNPDCDELADHIGFQEAYRRFYGPV-

Gorilla                       CELNPDCDELADHIGFQEAYRRFYGPV

                              CELNPNCDELADHIGFQEAYQRFYGPV

Rhesus macaque                CELNPDCDELADHIGFQEAYRRFYGPV

Chimpanzee                    CELNPDCDELADHIGFQEAYRRFYGPV

Mouse                         CELNPACDELSDQYGLKTAYKRIYGIT

Rat                           CELNPNCDELADHIGFQDAYKRIYGTT

Pig                           CELNPDCDELADHIGFQEAYRRFYGIA

Bovine                        CELNPDCDELADHIGFQEAYRRFYGPV

Rabbit                        CELNPDCDELADQVGLQDAYQRFYGPV

Goat                          CELNPDCDELADHIGFQEAYRRFYGIA

Cat                           CELNPDCDELADHIGFQDAYRRFYGTV

Horse                         CELNPDCDELADHIGFQEAYRRFYGPV

Chicken                       CELSPDCDELADQIGFQEAYRRFYGPV

Xenopus laevis                CELNPDCDELADHIGFQEAYRRFYGPV

Xenopus tropicalis            CELNPDCDELADHIGFQEAYRRFYGPV

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	52 – 100	Osteocalcin
Domain	52 – 98	Gla
Binding site	75 – 75
Binding site	75 – 75
Binding site	81 – 81
Modified residue	75 – 75	4-carboxyglutamate

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-94;

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.