Variant position: 176 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 444 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 REEYPDRIINTFSILPSPKV SDTVVEPYNATLSVHQLIENA
Chimpanzee REEYPDRIINTFSILPSPKV SDTVVEPYNATLSVHQLIENA
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 – 444 Tubulin beta-8 chain
172 – 172 Phosphoserine; by CDK1
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos.
Feng R.; Yan Z.; Li B.; Yu M.; Sang Q.; Tian G.; Xu Y.; Chen B.; Qu R.; Sun Z.; Sun X.; Jin L.; He L.; Kuang Y.; Cowan N.J.; Wang L.;
J. Med. Genet. 53:662-671(2016)
Cited for: INVOLVEMENT IN OOMD2; VARIANTS OOMD2 27-GLU--ALA-33 DEL; LEU-176; VAL-210; MET-238; MET-255; TRP-262; PRO-285 AND SER-348; CHARACTERIZATION OF VARIANTS OOMD2 27-GLU--ALA-33 DEL; LEU-176; VAL-210; MET-238; MET-255; TRP-262; PRO-285 AND SER-348;
Mutations in TUBB8 and human oocyte meiotic arrest.
Feng R.; Sang Q.; Kuang Y.; Sun X.; Yan Z.; Zhang S.; Shi J.; Tian G.; Luchniak A.; Fukuda Y.; Li B.; Yu M.; Chen J.; Xu Y.; Guo L.; Qu R.; Wang X.; Sun Z.; Liu M.; Shi H.; Wang H.; Feng Y.; Shao R.; Chai R.; Li Q.; Xing Q.; Zhang R.; Nogales E.; Jin L.; He L.; Gupta M.L. Jr.; Cowan N.J.; Wang L.;
N. Engl. J. Med. 374:223-232(2016)
Cited for: FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN OOMD2; VARIANTS OOMD2 LYS-2; LEU-176; ALA-229; GLN-262; ILE-300; THR-363 AND ASN-417; CHARACTERIZATION OF VARIANTS OOMD2 LYS-2; LEU-176; ALA-229; GLN-262; ILE-300; THR-363 AND ASN-417;
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