Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 467 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 YWEECPREGKSFKAKYKLVN HIRVHTGEKPFPCPFPGCGKI
Mouse YWEECPREGKSFKAKYKLVN HIRVHTGEKPFPCPFPGCGKI
Xenopus laevis YWEECPRGGKSFKAKYKLVN HIRVHTGEKPFPCPFPGCGKI
Xenopus tropicalis YWEECPRGGKSFKAKYKLVN HIRVHTGEKPFPCPFPGCGKI
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 – 467 Zinc finger protein ZIC 3
295 – 322 C2H2-type 2; atypical
297 – 322 Nuclear localization signal
304 – 304 R -> M. Increases its cytoplasmic localization.
307 – 307 K -> M. Increases its cytoplasmic localization.
310 – 310 K -> M. Increases its cytoplasmic localization.
312 – 312 K -> M. Increases its cytoplasmic localization.
314 – 314 K -> M. Does not increase its cytoplasmic localization.
320 – 320 R -> A. Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-337; A-341; A-346; A-349 and A-350.
326 – 326 K -> M. Does not increase its cytoplasmic localization.
337 – 337 K -> A. Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-341; A-346; A-349 and A-350.
312 – 323
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
Cowan J.; Tariq M.; Ware S.M.;
Hum. Mutat. 35:66-75(2014)
Cited for: VARIANTS CYS-17 AND ALA-53 INS; VARIANTS CHTD1 CYS-109; ALA-217 AND GLY-447; VARIANT HTX1 ALA-217; VARIANT VACTERLX ASN-318; CHARACTERIZATION OF VARIANTS CYS-17 AND ALA-53 INS; CHARACTERIZATION OF VARIANTS CHTD1 CYS-109 AND GLY-447; CHARACTERIZATION OF VARIANT CHTD1 ALA-217; CHARACTERIZATION OF VARIANT HTX1 ALA-217; CHARACTERIZATION OF VARIANT VACTERLX ASN-318;
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.