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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BTW9: Variant p.Ala475Thr

Tubulin-specific chaperone D
Gene: TBCD
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Variant information Variant position: help 475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Alanine (A) to Threonine (T) at position 475 (A475T, p.Ala475Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 PEBAT; decreased function in tubulin complex assembly; increased protein degradation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1192 The length of the canonical sequence.
Location on the sequence: help GACSVGTNVRDAACYVCWAF A RAYEPQELKPFVTAISSALV 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                         GACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALV

Mouse                         GACSVGANVRDAACYVCWAFARAYEPQELTPFVTAISSALV

Bovine                        GACSVGSNVRDAACYVCWAFARAYEPQELKPFVAAISSALV

Chicken                       GSCSVGSNLRDAACYLSWAFARAYDPSELIPFINQISSALV

Caenorhabditis elegans        GRHQNGNQVRDAACYAVWALSRTYEPSMMAPYLQRLASALL

Slime mold                    GTYSIGSHVRDSACYLCWALARTYHNSILSPYLLPICRNLV
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 – 1192 Tubulin-specific chaperone D
Alternative sequence 1 – 1008 Missing. In isoform 2.
Alternative sequence 1 – 546 Missing. In isoform 3.



Literature citations
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Edvardson S.; Tian G.; Cullen H.; Vanyai H.; Ngo L.; Bhat S.; Aran A.; Daana M.; Da'amseh N.; Abu-Libdeh B.; Cowan N.J.; Heng J.; Elpeleg O.;
Hum. Mol. Genet. 25:4635-4648(2016)
Cited for: FUNCTION; VARIANTS PEBAT THR-475 AND VAL-586; CHARACTERIZATION OF VARIANTS PEBAT THR-475 AND VAL-586; Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B.; Barash H.; Ziv L.; Gripp K.W.; Flex E.; Barel O.; Carvalho K.S.; Scavina M.; Chillemi G.; Niceta M.; Eyal E.; Kol N.; Ben-Zeev B.; Bar-Yosef O.; Marek-Yagel D.; Bertini E.; Duker A.L.; Anikster Y.; Tartaglia M.; Raas-Rothschild A.;
Clin. Genet. 91:725-738(2017)
Cited for: VARIANTS PEBAT THR-475; VAL-586 AND ARG-937;
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.