Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 206 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 KLRQETQEWNQQFWANQNLT FSKEKEEFIHSRLKTKGLGLR
Mouse ELRQETQEWNQQFWAKQNLS FNKEKEEFIYSRLQAKGAGLR
Rat ELRQETQEWNQQFWAKQNLS FNKEKEEFIYSRLQAKGSGPR
Bovine ELRQETQEWNQQFWADQNLT FHKEKEEFVRSRLKAKGLDLR
Caenorhabditis elegans LAREELNQWNSDFWAEHNQL FDRQKSDFVERK--------Q
Drosophila LKRIEVEAWNTDFWTKHNKR FYEEKEDFIR---------LH
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
40 – 206 Cytochrome c oxidase assembly factor 8
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L.; Haack T.B.; Hardy S.; Abbink T.E.; Fernandez-Vizarra E.; Lamantea E.; Marchet S.; Morandi L.; Moggio M.; Carrozzo R.; Torraco A.; Diodato D.; Strom T.M.; Meitinger T.; Tekturk P.; Yapici Z.; Al-Murshedi F.; Stevens R.; Rodenburg R.J.; Lamperti C.; Ardissone A.; Moroni I.; Uziel G.; Prokisch H.; Taylor R.W.; Bertini E.; van der Knaap M.S.; Ghezzi D.; Zeviani M.;
Am. J. Hum. Genet. 95:315-325(2014)
Cited for: VARIANTS MC4DN17 79-ARG--ASN-206 DEL; SER-118 AND GLU-124 DEL; CHARACTERIZATION OF VARIANT MC4DN17 79-ARG--ASN-206 DEL; INVOLVEMENT IN MC4DN17; SUBCELLULAR LOCATION; CLEAVAGE; FUNCTION; INDUCTION BY OXIDATIVE STRESS; TISSUE SPECIFICITY;
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.