Variant position: 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 224 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 RQQPPPMKACLSCHQQIHRN APICPLCKAKSRSRNPKKPKR
Mouse RQQPPPMKACLSCHQQIHRN APICPLCKAKSRSRNPKKPKR
Zebrafish RQQPPPMKACLSCHQQIHRN APICPLCKAKSRSRNPKKPKR
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 – 224 Zinc finger C4H2 domain-containing protein
189 – 206 C4H2-type
133 – 224 DYFEKQKAEWQTEPQEPPIPESLAAAAAAAQQLQVARKQDTRQTATFRQQPPPMKACLSCHQQIHRNAPICPLCKAKSRSRNPKKPKRKQDE -> EPACHVTSKFTGMHLYALFARPRVGPGTPKSRNGSRMNKEREST. In isoform 4.
134 – 224 Missing. In isoform 2.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints S.G.M.; Hennig F.; Colombo R.; Jacquemont S.; Terhal P.; Zimmerman H.H.; Hunt D.; Mendelsohn B.A.; Kordass U.; Webster R.; Sinnema M.; Abdul-Rahman O.; Suckow V.; Fernandez-Jaen A.; van Roozendaal K.; Stevens S.J.C.; Macville M.V.E.; Al-Nasiry S.; van Gassen K.; Utzig N.; Koudijs S.M.; McGregor L.; Maas S.M.; Baralle D.; Dixit A.; Wieacker P.; Lee M.; Lee A.S.; Engle E.C.; Houge G.; Gradek G.A.; Douglas A.G.L.; Longman C.; Joss S.; Velasco D.; Hennekam R.C.; Hirata H.; Kalscheuer V.M.;
Hum. Mutat. 40:2270-2285(2019)
Cited for: INVOLVEMENT IN WRWFFR; VARIANTS WRWFFR 23-GLN--GLU-224 DEL; 67-ARG--GLU-224 DEL; GLN-70; 142-TRP--GLU-224 DEL; HIS-201; SER-203 TRP-213 AND PHE-206; VARIANTS WRWF GLN-198; THR-200; VAL-200; TRP-213 AND ARG-217;
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