Variant position: 114 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 LR---QAAVGQGDFHLLDHRGRA RCKADFRGQWVLMYFGFTHCP
Mouse LR---QAAVGQGDFSLLDHKGQP RCKADFRGQWVLMYFGFT
Bovine LR---QAAVGQGDFSLLDHRGRV RCKADFRGQWVLLYFGFT
Zebrafish LR---KVALGQGDFHLLDHTGQR RTKRDFLGHWVLLYFGFT
Baker's yeast NRAYGSVALG-GPFNLTDFNGKP FTEENLKGKFSILYFGFS
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
133 – 133 Copper
113 – 115
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Pacheu-Grau D.; Bareth B.; Dudek J.; Juris L.; Voegtle F.N.; Wissel M.; Leary S.C.; Dennerlein S.; Rehling P.; Deckers M.;
Cell Metab. 21:823-833(2015)
Cited for: INTERACTION WITH COA6; CHARACTERIZATION OF VARIANT MYP6 HIS-114; CHARACTERIZATION OF VARIANT MC4DN2 TRP-171;
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet K.N.; Powell C.; Barathi V.A.; Klemm T.; Maurer-Stroh S.; Limviphuvadh V.; Soler V.; Ho C.; Yanovitch T.; Schneider G.; Li Y.J.; Nading E.; Metlapally R.; Saw S.M.; Goh L.; Rozen S.; Young T.L.;
Am. J. Hum. Genet. 92:820-826(2013)
Cited for: VARIANTS MYP6 HIS-114; LYS-140 AND VAL-259;
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.