Variant position: 349 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 DEGEECSDSEGSHNEEAKEP DKTNKKEGEK-TDRVGVEASEE
Mouse EEGEERSDSDSSHNEEAKEP DKTNRREGEK-TDRAGAEASE
Xenopus laevis VDGAEVSDSDGSQTEEAKET DPVQSQNQDD-DLSRNDHTVQ
Zebrafish EENDEYAEKDDSETEQTKDT DTNTRHESDRNEENCKSEEPS
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.
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.
Guella I.; Pistocchi A.; Asselta R.; Rimoldi V.; Ghilardi A.; Sironi F.; Trotta L.; Primignani P.; Zini M.; Zecchinelli A.; Coviello D.; Pezzoli G.; Del Giacco L.; Duga S.; Goldwurm S.;
Neurobiol. Aging 32:1994-2005(2011)
Cited for: VARIANTS SER-56; VAL-560; VAL-1131 AND ARG-1171; VARIANTS PARK11 CYS-273; GLU-349; THR-457 AND PRO-1209;
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