Variant position: 117 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 GGSPQSYEELQTQRVMANVR ERQRTQSLNEAFAALRKIIPT
Gorilla GGSPQSCEELQTQRVMANVR ERQRTQSLNEPFAALRKIIPT
Chimpanzee GGSPQSYEELQTQRVMANVR ERQRTQSLNEAFAALPKIIPT
Mouse GGSPQSYEELQTQRVMANVR ERQRTQSLNEAFAALRKIIPT
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
108 – 159 bHLH
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S.; Twigg S.R.F.; Scanlon V.A.; Chandra A.; Hansen T.J.; Alsubait A.; Fenwick A.L.; McGowan S.J.; Lord H.; Lester T.; Sweeney E.; Weber A.; Cox H.; Wilkie A.O.M.; Golden A.; Corsi A.K.;
Hum. Mol. Genet. 26:2118-2132(2017)
Cited for: INVOLVEMENT IN SWCOS; VARIANTS SWCOS GLY-117 AND VAL-117;
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