Variant position: 1566 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2845 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 ERRWTQMLAGAEDGGPGPSP RSFHAAAYVPAGRGAMYLLGG
Mouse ERRWTQMLAGAEDGGPGPSP RSFHAAAYVPAGRGAMYLLGG
Rat ERRWTQMLAGAEDGGPGPSP RSFHAAAYVPAGRGAMYLLGG
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
28 – 2845 Multiple epidermal growth factor-like domains protein 8
28 – 2647 Extracellular
1522 – 1570 Kelch 7
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Twigg S.R.; Lloyd D.; Jenkins D.; Elcioglu N.E.; Cooper C.D.; Al-Sannaa N.; Annagur A.; Gillessen-Kaesbach G.; Huning I.; Knight S.J.; Goodship J.A.; Keavney B.D.; Beales P.L.; Gileadi O.; McGowan S.J.; Wilkie A.O.;
Am. J. Hum. Genet. 91:897-905(2012)
Cited for: VARIANTS CRPT2 ARG-199; HIS-1566 AND GLY-2434;
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