Variant position: 586 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1192 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 HLVTMKISHWDGVIRELAAR ALHNLAQQAPEFSATQVFPRL
Mouse HLVSMKINHWDGAIRELSAK ALHNLTPQVPEYIAMHVFPAL
Bovine HLVTMKVGHWDGTIRELSAK ALRNLAQRAPEHTAREVFPRL
Chicken HLVNMKINHWDSVIRELSTK ALHNLTPRAPEYMANVVLPRL
Caenorhabditis elegans HLITKKVVHWDEKIREQAAI SLEKISEIRLENVSDDYYMEI
Slime mold HLATIKIYNWDLEIRQLASK SIHLLTNINPNDIVSNYLPLI
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 – 1192 Tubulin-specific chaperone D
557 – 594 HEAT 2
1 – 1008 Missing. In isoform 2.
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;
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.