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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NUY8: Variant p.Arg518Gln

TBC1 domain family member 23
Gene: TBC1D23
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Variant information Variant position: help 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Arginine (R) to Glutamine (Q) at position 518 (R518Q, p.Arg518Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In PCH11; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 699 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SVNVREKVISFIENTSTPVDRMSFNLPWPDRSCTERHVSSS

Mouse                         SVTVREKVISFIENSSTPVD---------------RHVSSS

Chicken                       SVNVKEKVISFIENTSTPVD---------------RHVSSS

Xenopus laevis                SVNVKDKVISFIENTATPVDRITFNIPWPERASLERHVSSS

Zebrafish                     SVNVKEKVISFIENTSTPVE---------------RHVSSS

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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.