Sequence information
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:
SVNVREKVISFIENTSTPVD
R MSFNLPWPDRSCTERHVSSS
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 SVNVREKVISFIENTSTPVDR MSFNLPWPDRSCTERHVSSS
Mouse SVTVREKVISFIENSSTPVDR ---------------HVSSS
Chicken SVNVKEKVISFIENTSTPVDR ---------------HVSSS
Xenopus laevis SVNVKDKVISFIENTATPVDR ITFNIPWPERASLERHVSSS
Zebrafish SVNVKEKVISFIENTSTPVER ---------------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
Chain
1 – 699
TBC1 domain family member 23
Region
514 – 699
May mediate the interaction with WASHC1
Region
514 – 573
May mediate the interaction with C17orf75, FAM91A1 and WDR11
Modified residue
507 – 507
Phosphoserine
Modified residue
514 – 514
Phosphothreonine
Modified residue
520 – 520
Phosphoserine
Alternative sequence
518 – 532
Missing. In isoform 2.
Literature citations
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;
Disclaimer:
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.