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.
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 VL--GTHKGWFLYTLGQRANI------G GLREP-----WYVVEKDSVKGDVFVA
Mouse VL--GTHKGWFLYTLGQRAKI------S GLREP-----WYV
Rat VL--GTHKGWFLYTLGQRAKI------S GLSEP-----WYV
Chicken VM--GTHKGWFLYTIGQRARL------A GLQGA-----WFV
Zebrafish IM--GKHKGWFTLTLGQRARI------G GRADA-----WFV
Caenorhabditis elegans EI--GNHHGIHQFTIGKRIN-------G KYLEARSHLGFFV
Drosophila VV--GHHEGIHQWTVGQRCRL------S SFLQP-----YFV
Slime mold FIKGKKHKGSVCYTMGQKANI------D SLSER-----YFI
Baker's yeast KTTWGRHDGLWSYTIGQKVGISMPQADP NYQGT-----WFV
Fission yeast FS--GNH-GIWSLTVGERCGLSLPQAQS EYFGR-----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.
Type Positions Description
1 – 421 Mitochondrial tRNA-specific 2-thiouridylase 1
267 – 267 Interaction with tRNA
167 – 421 Missing. In isoform 5.
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)
Cited for: VARIANTS LFIT HIS-77 AND ASP-272; VARIANTS SER-10; SER-14 AND MET-279;
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.