UniProtKB/Swiss-Prot P07814: Variant p.Gln334His

Bifunctional glutamate/proline--tRNA ligase
Gene: EPRS1
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Variant information Variant position:

334 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 Glutamine (Q) to Histidine (H) at position 334 (Q334H, p.Gln334His). 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 polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1063236 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1512 The length of the canonical sequence.
Location on the sequence:

NPIEKNLQMWEEMKKGSQFG Q SCCLRAKIDMSSNNGCMRDP 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                         NPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDP

Mouse                         NSVEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDP

Drosophila                    NSVEKNLSLWEEMVKGSEKGQKYCVRAKIDMSSPNGCMRDP

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 – 1512	Bifunctional glutamate/proline--tRNA ligase
Region	164 – 759	Glutamate--tRNA ligase

Literature citations
The primary structure of human glutaminyl-tRNA synthetase. A highly conserved core, amino acid repeat regions, and homologies with translation elongation factors.
Fett R.; Knippers R.;
J. Biol. Chem. 266:1448-1455(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 54-1512; VARIANTS GLU-308 AND HIS-334; REGION; Identification of a proliferation inducing gene.
Kim J.W.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 62-1512; VARIANTS GLU-308 AND HIS-334; The core region of human glutaminyl-tRNA synthetase homologies with the Escherichia coli and yeast enzymes.
Thoemmes P.; Fett R.; Schray B.; Kunze N.; Knippers R.;
Nucleic Acids Res. 16:5391-5406(1988)
Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 168-959; VARIANTS GLU-308 AND HIS-334; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; REGION;

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.