Variant position: 178 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:
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 PRSAYNVYVAERFQEAKGDS PQEKLKTVKENWKNLSDSEKE
Mouse PRSAYNIYVSESFQEAKDDS AQGKLKLVNEAWKNLSPEEKQ
Rat PRSAYNIYVSESFQEAKDES AQGKLKLVNQAWKNLSHDEKQ
Pig PRSAYNIFIAERFQEAKDGP SQVKLKTINENWKNLSSSQKQ
Bovine PRSAYNIFIAERFQEARDGT SQVKLKAINENWKNLSNSQKQ
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
43 – 246 Transcription factor A, mitochondrial
155 – 219 HMG box 2
182 – 182 Intercalates between bases and promotes DNA bending
160 – 160 Phosphoserine; by PKA
193 – 193 Phosphoserine
195 – 195 Phosphoserine
148 – 179 Missing. In isoform 2.
162 – 162 Y -> A. Moderate reduction in DNA bending.
178 – 190
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Stiles A.R.; Simon M.T.; Stover A.; Eftekharian S.; Khanlou N.; Wang H.L.; Magaki S.; Lee H.; Partynski K.; Dorrani N.; Chang R.; Martinez-Agosto J.A.; Abdenur J.E.;
Mol. Genet. Metab. 119:91-99(2016)
Cited for: INVOLVEMENT IN MTDPS15; VARIANT MTDPS15 LEU-178;
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.