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UniProtKB/Swiss-Prot Q96RP9: Variant p.Arg250Trp

Elongation factor G, mitochondrial
Gene: GFM1
Chromosomal location: 3q25.1-q26.2
Variant information

Variant position:  250
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Tryptophan (W) at position 250 (R250W, p.Arg250Trp).
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 large size and aromatic (W)
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

Involvement in disease:  Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. {ECO:0000269|PubMed:15537906, ECO:0000269|PubMed:17160893, ECO:0000269|PubMed:21119709, ECO:0000269|PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In COXPD1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  250
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  751
The length of the canonical sequence.

Location on the sequence:   GQIVRYGEIPAELRAAATDH  R QELIECVANSDEQLGEMFLE
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                         GQIVRY-GEIPAELRAAATDHRQELIECVANSDEQLGEMFLE

Mouse                         GQIVRY-DEIPAGLRAAAADHRQELIECVANSDEQLGELFL

Rat                           GQIVRY-DEIPADLRAAAADHRQELIECVANSDEQLGELFL

Xenopus laevis                GQSVRY-DDIPAEFRAEATDRRQELIESVANSDEILGEMFL

Zebrafish                     GESVRY-EDIPPEMRSEAADRRQELVECVANADETLGEMFL

Caenorhabditis elegans        GLIVRK-DEIPKDLRVEAEDRRQELIEHIANVDETLGEMFL

Drosophila                    GMDIRL-DEIPQDMRVESLERRQELIEHLSNADETLGELFL

Slime mold                    GTAPII-EEIPSNFVEFVKEKKMELVETIANVDDELGEWMI

Baker's yeast                 GEIIEK-GPVPENLKPLMEEKRQLLIETLADVDDEMAEMFL

Fission yeast                 GEKIEISQQVPENLIELAKEKRSALIEKLADLDEEIADIYV

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.

TypePositionsDescription
Chain 37 – 751 Elongation factor G, mitochondrial
Domain 44 – 321 tr-type G
Alternative sequence 230 – 230 G -> GHFLRDFLPLLWNWDRRSGS. In isoform 2.


Literature citations

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Smits P.; Antonicka H.; van Hasselt P.M.; Weraarpachai W.; Haller W.; Schreurs M.; Venselaar H.; Rodenburg R.J.; Smeitink J.A.; van den Heuvel L.P.;
Eur. J. Hum. Genet. 19:275-279(2011)
Cited for: VARIANT COXPD1 TRP-250;

A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.
Kohda M.; Tokuzawa Y.; Kishita Y.; Nyuzuki H.; Moriyama Y.; Mizuno Y.; Hirata T.; Yatsuka Y.; Yamashita-Sugahara Y.; Nakachi Y.; Kato H.; Okuda A.; Tamaru S.; Borna N.N.; Banshoya K.; Aigaki T.; Sato-Miyata Y.; Ohnuma K.; Suzuki T.; Nagao A.; Maehata H.; Matsuda F.; Higasa K.; Nagasaki M.; Yasuda J.; Yamamoto M.; Fushimi T.; Shimura M.; Kaiho-Ichimoto K.; Harashima H.; Yamazaki T.; Mori M.; Murayama K.; Ohtake A.; Okazaki Y.;
PLoS Genet. 12:E1005679-E1005679(2016)
Cited for: VARIANTS COXPD1 TYR-57 AND TRP-250;

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.