Variant position: 609 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 669 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 SLPRQLFEIAIQAAIGS--KII ARETVKAYRKNVLAKCYG----GDI
Mouse SLPRQLYEIAIQAAVGS--KVI ARETVKAYRKNVLAKCYG-
Bovine SLPRQLFEIAIQAALGS--KII ARETVKAYRKNVLAKCYG-
Caenorhabditis elegans EIPRQQFEVTIKACIGSSTKAL SQIVIQPMKRDFSQLLKGN
Drosophila LIPKQMVQIAIQACVGS--KVL ARETIKAYRKDVTAKLYG-
Slime mold VIDRQMFQVNIQAMVGS--DVQ ARETISAMRKDVTAKCYG-
Baker's yeast YVKSQLYEVVIQARANN--KII ARETIKARRKDVLQKLHA-
Fission yeast LVPKQLYEVILQAVIDN--RVV ARESISALRKNVTAKCYG-
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
50 – 669 Translation factor GUF1, mitochondrial
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz A.A.; Mueller V.; Boutry-Kryza N.; Ville D.; Guex N.; de Bellescize J.; Rivier C.; Labalme A.; des Portes V.; Edery P.; Till M.; Xenarios I.; Sanlaville D.; Herrmann J.M.; Lesca G.; Reymond A.;
Eur. J. Hum. Genet. 24:1001-1008(2016)
Cited for: INVOLVEMENT IN DEE40; VARIANT DEE40 SER-609;
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