Variant position: 112 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 EALR---QAAVGQGDFHLLDHRG RARCKADFRGQWVLMYFGFTH
Mouse EALR---QAAVGQGDFSLLDHKG QPRCKADFRGQWVLMYFG
Bovine EALR---QAAVGQGDFSLLDHRG RVRCKADFRGQWVLLYFG
Zebrafish EQLR---KVALGQGDFHLLDHTG QRRTKRDFLGHWVLLYFG
Baker's yeast DANRAYGSVALG-GPFNLTDFNG KPFTEENLKGKFSILYFG
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
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D.; Li J.; Xiao X.; Li S.; Jia X.; Sun W.; Guo X.; Zhang Q.;
Invest. Ophthalmol. Vis. Sci. 56:339-345(2015)
Cited for: VARIANTS MYP6 TRP-112 AND TRP-120;
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