Variant position: 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 699 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 SVNVREKVISFIENTSTPVD RMSFNLPWPDRSCTERHVSSS
Mouse SVTVREKVISFIENSSTPVD R---------------HVSSS
Chicken SVNVKEKVISFIENTSTPVD R---------------HVSSS
Xenopus laevis SVNVKDKVISFIENTATPVD RITFNIPWPERASLERHVSSS
Zebrafish SVNVKEKVISFIENTSTPVE R---------------HVSSS
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 – 699 TBC1 domain family member 23
514 – 699 May mediate the interaction with WASHC1
514 – 573 May mediate the interaction with C17orf75, FAM91A1 and WDR11
507 – 507 Phosphoserine
514 – 514 Phosphothreonine
520 – 520 Phosphoserine
518 – 532 Missing. In isoform 2.
Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia.
Marin-Valencia I.; Gerondopoulos A.; Zaki M.S.; Ben-Omran T.; Almureikhi M.; Demir E.; Guemez-Gamboa A.; Gregor A.; Issa M.Y.; Appelhof B.; Roosing S.; Musaev D.; Rosti B.; Wirth S.; Stanley V.; Baas F.; Barr F.A.; Gleeson J.G.;
Am. J. Hum. Genet. 101:441-450(2017)
Cited for: INVOLVEMENT IN PCH11; VARIANT PCH11 GLN-518; SUBCELLULAR LOCATION; 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.