Variant position: 272 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 403 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 GALHRELVKRYQEKWDKLLL TSTEKSHVDLFPKDSIIYLTA
Mouse SAYHRELVKRYREKWDKLLL TATEKSPVDLFPKDSIIYLTA
Rat GAYHRELVKRYGEKWDKLLL TATEKSPVDLFPKDSIIYLTA
Bovine GAYYKELVKRYGEKWNKLLL TATEKSHVDLFPKDSIIYLTA
Xenopus tropicalis SMYHKELVKRYIGAWDNVFV TATDKSHVEMFPKEQLVYLTA
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
40 – 403 tRNA methyltransferase 10 homolog C
191 – 383 SAM-dependent MTase TRM10-type
271 – 273
Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies.
Metodiev M.D.; Thompson K.; Alston C.L.; Morris A.A.; He L.; Assouline Z.; Rio M.; Bahi-Buisson N.; Pyle A.; Griffin H.; Siira S.; Filipovska A.; Munnich A.; Chinnery P.F.; McFarland R.; Roetig A.; Taylor R.W.;
Am. J. Hum. Genet. 98:993-1000(2016)
Cited for: FUNCTION; INVOLVEMENT IN COXPD30; VARIANTS COXPD30 LEU-181 AND ALA-272; CHARACTERIZATION OF VARIANTS COXPD30 LEU-181 AND ALA-272;
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.