Sequence information
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:
YWEECPREGKSFKAKYKLVN
H IRVHTGEKPFPCPFPGCGKI
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 YWEECPREGKSFKAKYKLVNH IRVHTGEKPFPCPFPGCGKI
Mouse YWEECPREGKSFKAKYKLVNH IRVHTGEKPFPCPFPGCGKI
Xenopus laevis YWEECPRGGKSFKAKYKLVNH IRVHTGEKPFPCPFPGCGKI
Xenopus tropicalis YWEECPRGGKSFKAKYKLVNH IRVHTGEKPFPCPFPGCGKI
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
Chain
1 – 467
Zinc finger protein ZIC 3
Zinc finger
295 – 322
C2H2-type 2; atypical
Motif
297 – 322
Nuclear localization signal
Mutagenesis
304 – 304
R -> M. Increases its cytoplasmic localization.
Mutagenesis
307 – 307
K -> M. Increases its cytoplasmic localization.
Mutagenesis
310 – 310
K -> M. Increases its cytoplasmic localization.
Mutagenesis
312 – 312
K -> M. Increases its cytoplasmic localization.
Mutagenesis
314 – 314
K -> M. Does not increase its cytoplasmic localization.
Mutagenesis
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.
Mutagenesis
326 – 326
K -> M. Does not increase its cytoplasmic localization.
Mutagenesis
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.
Helix
312 – 323
Literature citations
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;
Disclaimer:
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.