Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 YRVYYNAGPKD--EDQDYIVDH SIAIYLLNPDGLFTDYYGRSR
Mouse YRVYYSAGPKD--EDQDYIVDH SIAIYLLNPDGLFTDYYGR
Bovine YRVYYSAGPKD--EDQDYIVDH SIAIYLLSPDGLFTDYYSR
Zebrafish FRVYASNGPKD--EDGDYIVDH SIVIYLVNPDGLFIDYYNR
Baker's yeast YKVYFST-PRDVKPNQDYLVDH SIFFYLIDPEGQFIDALGR
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
42 – 266 Protein SCO2 homolog, mitochondrial
79 – 266 Mitochondrial intermembrane
85 – 259 Thioredoxin
224 – 224 Copper
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Papadopoulou L.C.; Sue C.M.; Davidson M.M.; Tanji K.; Nishino I.; Sadlock J.E.; Krishna S.; Walker W.; Selby J.; Glerum D.M.; Van Coster R.; Lyon G.; Scalais E.; Lebel R.; Kaplan P.; Shanske S.; De Vivo D.C.; Bonilla E.; Hirano M.; DiMauro S.; Schon E.A.;
Nat. Genet. 23:333-337(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MC4DN2 LYS-140 AND PHE-225;
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.