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UniProtKB/Swiss-Prot Q96DP5: Variant p.Ser209Leu

Methionyl-tRNA formyltransferase, mitochondrial
Gene: MTFMT
Variant information

Variant position:  209
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 Serine (S) to Leucine (L) at position 209 (S209L, p.Ser209Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In COXPD15 and MC1DN27.
Any additional useful information about the variant.

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



Sequence information

Variant position:  209
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  389
The length of the canonical sequence.

Location on the sequence:   KQETVPVPPKSTAKELEAVL  S RLGANMLISVLKNLPESLSN
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                         KQ-ETVPVP--------------------PKSTAKELEAVLSRLGANMLISVLKN---LPESLSN

Mouse                         QQ-ETIPVP--------------------PKSTSKELEAVL

Rat                           KQ-ETVAVP--------------------PKSTSKELEAVL

Bovine                        KQ-ETVPVP--------------------PKSTSKELEAVL

Baker's yeast                 AQTEPLAIATMLSKGRVNDSTADFNSEGLPRRTAILMDQ-L

Fission yeast                 AQ-AYLKLN--------------------GKETYTLLTKIL

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
Alternative sequence 145 – 389 Missing. In isoform 2.


Literature citations

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker E.J.; Hershman S.G.; Koehrer C.; Belcher-Timme C.A.; Patel J.; Goldberger O.A.; Christodoulou J.; Silberstein J.M.; McKenzie M.; Ryan M.T.; Compton A.G.; Jaffe J.D.; Carr S.A.; Calvo S.E.; RajBhandary U.L.; Thorburn D.R.; Mootha V.K.;
Cell Metab. 14:428-434(2011)
Cited for: VARIANTS COXPD15 LEU-125 AND LEU-209;

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack T.B.; Haberberger B.; Frisch E.M.; Wieland T.; Iuso A.; Gorza M.; Strecker V.; Graf E.; Mayr J.A.; Herberg U.; Hennermann J.B.; Klopstock T.; Kuhn K.A.; Ahting U.; Sperl W.; Wilichowski E.; Hoffmann G.F.; Tesarova M.; Hansikova H.; Zeman J.; Plecko B.; Zeviani M.; Wittig I.; Strom T.M.; Schuelke M.; Freisinger P.; Meitinger T.; Prokisch H.;
J. Med. Genet. 49:277-283(2012)
Cited for: VARIANTS MC1DN27 LEU-209 AND 332-ARG--GLU-389 DEL;

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.