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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q969Y2: Variant p.Pro257His

tRNA modification GTPase GTPBP3, mitochondrial
Gene: GTPBP3
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Variant information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Proline (P) to Histidine (H) at position 257 (P257H, p.Pro257His). 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: help Change from medium size and hydrophobic (P) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In COXPD23. Any additional useful information about the variant.


Sequence information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 492 The length of the canonical sequence.
Location on the sequence: help LRDARRGQRLRSGVHVVVTG P PNAGKSSLVNLLSRKPVSIV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LRDARRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSIV

Mouse                         LRDARRGQRLLSGANVVVTGPPNAGKSSLVNLLSQKPVSIV

Rat                           LRDARRGQRLRSGANVVVAGPPNAGKSSLVNLLSQKPVSIV

Zebrafish                     LSDERRGERLRSGVHVVIAGSTNAGKSSLLNLLTQRPAAIV

Slime mold                    LNDGKRGERLRDGANIAIVGPPNAGKSSLINLLTNRKASIV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 82 – 492 tRNA modification GTPase GTPBP3, mitochondrial
Domain 249 – 416 TrmE-type G
Binding site 256 – 263



Literature citations
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Kopajtich R.; Nicholls T.J.; Rorbach J.; Metodiev M.D.; Freisinger P.; Mandel H.; Vanlander A.; Ghezzi D.; Carrozzo R.; Taylor R.W.; Marquard K.; Murayama K.; Wieland T.; Schwarzmayr T.; Mayr J.A.; Pearce S.F.; Powell C.A.; Saada A.; Ohtake A.; Invernizzi F.; Lamantea E.; Sommerville E.W.; Pyle A.; Chinnery P.F.; Crushell E.; Okazaki Y.; Kohda M.; Kishita Y.; Tokuzawa Y.; Assouline Z.; Rio M.; Feillet F.; Mousson de Camaret B.; Chretien D.; Munnich A.; Menten B.; Sante T.; Smet J.; Regal L.; Lorber A.; Khoury A.; Zeviani M.; Strom T.M.; Meitinger T.; Bertini E.S.; Van Coster R.; Klopstock T.; Rotig A.; Haack T.B.; Minczuk M.; Prokisch H.;
Am. J. Hum. Genet. 95:708-720(2014)
Cited for: INVOLVEMENT IN COXPD23; VARIANTS COXPD23 LEU-3; LYS-142; VAL-159; PRO-162; GLY-222; HIS-257; 312-GLY--VAL-319 DEL; HIS-337 AND LYS-459; VARIANTS LYS-225 AND PRO-322;
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.