Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 467 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 YNQKNVSENSQDYQHGIFQS IGFKEFHEYLITEGKCTLETS
Mouse YNLKNISENSQDYQHGIFQS IGFKEFHEYLTTEGKCTPETS
Baker's yeast YSQNKFT--PEQCENGVWQV IGFKEFLPWLTGK----TDDN
Fission yeast AESEKFS---PDFTRGIWQC IGFKEFMPWFEAP-------S
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
48 – 467 tRNA dimethylallyltransferase
281 – 283 Interaction with substrate tRNA
6 – 309 Missing. In isoform 6.
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan K.D.; Dyment D.A.; Pupavac M.; Cramer Z.; McBride A.; Bernard G.; Straub I.; Tetreault M.; Hartley T.; Huang L.; Sell E.; Majewski J.; Rosenblatt D.S.; Shoubridge E.; Mhanni A.; Myers T.; Proud V.; Vergano S.; Spangler B.; Farrow E.; Kussman J.; Safina N.; Saunders C.; Boycott K.M.; Thiffault I.;
Hum. Mutat. 38:511-516(2017)
Cited for: INVOLVEMENT IN COXPD35; VARIANTS COXPD35 8-ARG--VAL-467 DEL; SER-283; GLU-286; 402-ARG--VAL-467 DEL AND PRO-419;
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.