Variant position: 345 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1299 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 FRPVDEGEECSDSEGSHNEE AKEPDKTNKKEGEK-TDRVGVE
Mouse FRPVEEGEERSDSDSSHNEE AKEPDKTNRREGEK-TDRAGA
Xenopus laevis FHPSVDGAEVSDSDGSQTEE AKETDPVQSQNQDD-DLSRND
Zebrafish FRPLEENDEYAEKDDSETEQ TKDTDTNTRHESDRNEENCKS
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
2 – 1299 GRB10-interacting GYF protein 2
266 – 433 Disordered
313 – 365 Basic and acidic residues
365 – 365 Missing. In isoform 2.
Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population.
Wang L.; Guo J.F.; Zhang W.W.; Xu Q.; Zuo X.; Shi C.H.; Luo L.Z.; Liu J.; Hu L.; Hu Y.C.; She L.; Jiang H.; Yan X.X.; Xia K.; Pan Q.; Tang B.S.;
Neurosci. Lett. 473:131-135(2010)
Cited for: VARIANTS PARK11 LYS-256; VAL-345; TYR-377; SER-473; LYS-492; TYR-519; PHE-580; GLN-979 DEL AND HIS-1070;
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.