Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 596 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 CRVLLTHEIMCSRCCDKKSC GNRNETPSDPVIIDRFFLKFF
Mouse CRVLLTHEIMCSRCCDKKSC GNRNETPSDPVIIDRFFLKFF
Xenopus laevis CRVLLTHEIMCSRCCDKKSC GNRNETPSDPVIIDRFFLKFF
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 – 596 Transcription factor COE3
163 – 163 Interaction with DNA
172 – 172 Interaction with DNA
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism.
Harms F.L.; Girisha K.M.; Hardigan A.A.; Kortuem F.; Shukla A.; Alawi M.; Dalal A.; Brady L.; Tarnopolsky M.; Bird L.M.; Ceulemans S.; Bebin M.; Bowling K.M.; Hiatt S.M.; Lose E.J.; Primiano M.; Chung W.K.; Juusola J.; Akdemir Z.C.; Bainbridge M.; Charng W.L.; Drummond-Borg M.; Eldomery M.K.; El-Hattab A.W.; Saleh M.A.; Bezieau S.; Cogne B.; Isidor B.; Kuery S.; Lupski J.R.; Myers R.M.; Cooper G.M.; Kutsche K.;
Am. J. Hum. Genet. 100:117-127(2017)
Cited for: VARIANTS HADDS ASP-66; CYS-141; HIS-GLU-ILE-159 INS; ASP-171; LEU-177 AND TRP-209; CHARACTERIZATION OF VARIANTS HADDS ASP-66; CYS-141; HIS-GLU-ILE-159 INS; ASP-171; LEU-177 AND TRP-209; INVOLVEMENT IN HADDS; FUNCTION; SUBCELLULAR LOCATION;
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.