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UniProtKB/Swiss-Prot O75648: Variant p.Gly272Asp

Mitochondrial tRNA-specific 2-thiouridylase 1
Gene: TRMU
Variant information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Aspartate (D) at position 272 (G272D, p.Gly272Asp).
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 glycine (G) to medium size and acidic (D)
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

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

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

Sequence information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  421
The length of the canonical 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                         VL--GTHKGWFLYTLGQRANI------GGLREP-----WYVVEKDSVKGDVFVA

Mouse                         VL--GTHKGWFLYTLGQRAKI------SGLREP-----WYV

Rat                           VL--GTHKGWFLYTLGQRAKI------SGLSEP-----WYV

Chicken                       VM--GTHKGWFLYTIGQRARL------AGLQGA-----WFV

Zebrafish                     IM--GKHKGWFTLTLGQRARI------GGRADA-----WFV

Caenorhabditis elegans        EI--GNHHGIHQFTIGKRIN-------GKYLEARSHLGFFV

Drosophila                    VV--GHHEGIHQWTVGQRCRL------SSFLQP-----YFV

Slime mold                    FIKGKKHKGSVCYTMGQKANI------DSLSER-----YFI


Fission yeast                 FS--GNH-GIWSLTVGERCGLSLPQAQSEYFGR-----WYV

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.

Chain 1 – 421 Mitochondrial tRNA-specific 2-thiouridylase 1
Site 267 – 267 Interaction with tRNA
Alternative sequence 167 – 421 Missing. In isoform 5.

Literature citations

Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A.; Shaag A.; Pappo O.; Mager-Heckel A.-M.; Saada A.; Beinat M.; Karicheva O.; Mandel H.; Ofek N.; Segel R.; Marom D.; Roetig A.; Tarassov I.; Elpeleg O.;
Am. J. Hum. Genet. 85:401-407(2009)

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.