Variant position: 186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 202 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 DELDSKMASCSYVAHERLSY AFSVWRMEGAWSMSASH
Gorilla DELDSKTASCSYVAHEWLSY AFSVWRMEGAWSMSASH
Chimpanzee DELDSKMAS--YVAHERLSY AFSVWRMEGAWSMSASH
Mouse DELDSKMASCSYVAHERLSY AFSVWRMEGAWSMSASH
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 – 202 Twist-related protein 1
161 – 191 Sufficient for transactivation activity
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto M.L.; Hing A.V.; Chang J.; Hu M.; Kapp-Simon K.A.; Patel P.K.; Burton B.K.; Kane A.A.; Smyth M.D.; Hopper R.; Ellenbogen R.G.; Stevenson K.; Speltz M.L.; Cunningham M.L.;
Am. J. Med. Genet. A 143:678-686(2007)
Cited for: VARIANTS CRS1 THR-186 AND LEU-188;
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