Variant position: 14 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 274 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 MLSVASRSGPFAP VLSATSRGVAGALRPLVQATV
Gorilla MLSVAARSGPFAP VLSATSRGVAGALRPLVQATV
Chimpanzee MLSVAARSGPFAP VLSATSRGVAGALRPLVQATV
Mouse MLSVAARSGPFAP VLSATSRGVAGALRPLLQGAV
Rat MLSVAARSGPFAP VLSATSRGVAGALRPLLQSAV
Bovine MLSVAARSGPFAP VLSATSRGVAGALRPLVQAAV
Chicken MLSVAARSGPFAP YLSAAAHAVPGPLKALAPAAL
Baker's yeast MLGI--------- -----RSSVKTCFKPMSLTSK
Fission yeast MLAK--------- --QFISKSLASSLRRLLPVSS
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
1 – 78 Cytochrome b-c1 complex subunit 9
14 – 19
Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis.
Gusic M.; Schottmann G.; Feichtinger R.G.; Du C.; Scholz C.; Wagner M.; Mayr J.A.; Lee C.Y.; Yepez V.A.; Lorenz N.; Morales-Gonzalez S.; Panneman D.M.; Roetig A.; Rodenburg R.J.T.; Wortmann S.B.; Prokisch H.; Schuelke M.;
Am. J. Hum. Genet. 106:102-111(2020)
Cited for: INVOLVEMENT IN MC3DN10; VARIANTS MC3DN10 ASP-14 AND 204-ARG--GLY-274 DEL; CHARACTERIZATION OF VARIANTS MC3DN10 ASP-14 AND 204-ARG--GLY-274 DEL; FUNCTION; SUBCELLULAR LOCATION;
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.