UniProtKB/Swiss-Prot Q9Y2C4: Variant p.Gly277Val

Nuclease EXOG, mitochondrial
Gene: EXOG
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Variant information Variant position:

277 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 Glycine (G) to Valine (V) at position 277 (G277V, p.Gly277Val). 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 glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Abolishes catalytic activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1141223 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GFQPQLTEFQVSLQDLEKLS G LVFFPHLDRTSDIRNICSVD 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                         GFQPQLTEFQVSLQDLEKLSGLVFFPHLDRTSDIRNICSVD

Mouse                         GFQSQLSEFQVSLHDLEKMSGLVFFPRLDRSRDIRNICSVD

Xenopus laevis                GFDHQLPEYKVQLEDLEKMSGLLFFPQLDRDKGLKPLCDVD

Zebrafish                     GFQHQLQEFQVSVCDLERESGLVFFPALQKQQ-LSDLCTVD

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	42 – 368	Nuclease EXOG, mitochondrial
Alternative sequence	231 – 289	VILARRSSVSTEPLALGAFVVPNEAIGFQPQLTEFQVSLQDLEKLSGLVFFPHLDRTSD -> DHAGCCVESPLGTRTSEEATARIQERDDGGSDQRSGLVELGIYFEGRANRISGRIGCRV. In isoform 2.

Literature citations
Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3.
Daigo Y.; Isomura M.; Nishiwaki T.; Tamari M.; Ishikawa S.; Kai M.; Takeuchi K.; Yamane Y.; Hayashi R.; Minami M.; Fujino M.A.; Hojo Y.; Uchiyama I.; Takagi T.; Nakamura Y.;
DNA Res. 6:37-44(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT VAL-277; EXOG, a novel paralog of endonuclease G in higher eukaryotes.
Cymerman I.A.; Chung I.; Beckmann B.M.; Bujnicki J.M.; Meiss G.;
Nucleic Acids Res. 36:1369-1379(2008)
Cited for: FUNCTION; COFACTOR; SUBUNIT; SUBCELLULAR LOCATION; MUTAGENESIS OF SER-137 AND HIS-140; CHARACTERIZATION OF VARIANT VAL-277;

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.