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UniProtKB/Swiss-Prot Q00059: Variant p.Ser12Thr

Transcription factor A, mitochondrial
Gene: TFAM
Variant information

Variant position:  12
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 Serine (S) to Threonine (T) at position 12 (S12T, p.Ser12Thr).
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 polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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.



Sequence information

Variant position:  12
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  246
The length of the canonical sequence.

Location on the sequence:   MAFLRSMWGVL  S ALGRSGAELCTGCGSRLRSP
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                         MAFLRSMWGVLSALGRSGAELCTGCGSRLRSP

Mouse                         MALFRGMWSVLKALGRTGVEMCAGCGGRIPSS

Rat                           MALFRGMWGVLRTLGRTGVEMCAGCGGRIPSP

Pig                           MALLRGVWGVLSALGKSGADLCAVCGSRLRSP

Bovine                        MALLRGVWGVLNALGKSGADLCAGCGSRLRYP

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
Transit peptide 1 – 42 Mitochondrion


Literature citations

Human protein factory for converting the transcriptome into an in vitro-expressed proteome.
Goshima N.; Kawamura Y.; Fukumoto A.; Miura A.; Honma R.; Satoh R.; Wakamatsu A.; Yamamoto J.; Kimura K.; Nishikawa T.; Andoh T.; Iida Y.; Ishikawa K.; Ito E.; Kagawa N.; Kaminaga C.; Kanehori K.; Kawakami B.; Kenmochi K.; Kimura R.; Kobayashi M.; Kuroita T.; Kuwayama H.; Maruyama Y.; Matsuo K.; Minami K.; Mitsubori M.; Mori M.; Morishita R.; Murase A.; Nishikawa A.; Nishikawa S.; Okamoto T.; Sakagami N.; Sakamoto Y.; Sasaki Y.; Seki T.; Sono S.; Sugiyama A.; Sumiya T.; Takayama T.; Takayama Y.; Takeda H.; Togashi T.; Yahata K.; Yamada H.; Yanagisawa Y.; Endo Y.; Imamoto F.; Kisu Y.; Tanaka S.; Isogai T.; Imai J.; Watanabe S.; Nomura N.;
Nat. Methods 5:1011-1017(2008)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT THR-12;

Upstream region of a genomic gene for human mitochondrial transcription factor 1.
Tominaga K.; Akiyama S.; Kagawa Y.; Ohta S.;
Biochim. Biophys. Acta 1131:217-219(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-34; VARIANT THR-12;

Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-122; SER-193 AND SER-195; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.
Alonso-Montes C.; Castro M.G.; Reguero J.R.; Perrot A.; Ozcelik C.; Geier C.; Posch M.G.; Moris C.; Alvarez V.; Ruiz-Ortega M.; Coto E.;
Dis. Markers 25:131-139(2008)
Cited for: VARIANT THR-12;

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.