Variant position: 2637 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3526 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 VHKRRYLLQPIAVEVFSGDG RNYLLAFQKGIRNKVYQRFLA
Mouse VHKRRYLLQPIAVEVFSGDG RNYLLAFQKGIRNKVYQRFLA
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 – 3526 WD repeat and FYVE domain-containing protein 3
2531 – 2656 BEACH-type PH
2285 – 2981 Sufficient for localization to p62 bodies/ALIS
2586 – 3526 Interaction with SQSTM1
ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size.
Kadir R.; Harel T.; Markus B.; Perez Y.; Bakhrat A.; Cohen I.; Volodarsky M.; Feintsein-Linial M.; Chervinski E.; Zlotogora J.; Sivan S.; Birnbaum R.Y.; Abdu U.; Shalev S.; Birk O.S.;
PLoS Genet. 12:E1005919-E1005919(2016)
Cited for: VARIANT MCPH18 TRP-2637; CHARACTERIZATION OF VARIANT MCPH18 TRP-2637; FUNCTION;
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.