Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 443 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 GFALA-PGPF-DWPCFLLTSVG TGLASCAANSINQFFEVPFDS
Mouse GFALA-PGPF-DWSCFLLTSLG TGLASCAANSINQFFEVPF
Slime mold GYVAACPIGAFDWVVLSQVSIG TFLASCSANIHNQEIEVQH
Baker's yeast SYALS-PYPA-SVNELLCLTVG TTLCSGSANAINMGREPEF
Fission yeast SYALA-PYPGLSFNTLAWLTMG TALCSISANAFNQSMEPML
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
16 – 207 Missing. In isoform 2.
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H.; Leary S.C.; Guercin G.-H.; Agar J.N.; Horvath R.; Kennaway N.G.; Harding C.O.; Jaksch M.; Shoubridge E.A.;
Hum. Mol. Genet. 12:2693-2702(2003)
Cited for: VARIANTS MC4DN3 LYS-196; LEU-225; GLY-336 AND VAL-336;
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