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UniProtKB/Swiss-Prot Q6Y7W6: Variant p.Asn457Thr

GRB10-interacting GYF protein 2
Gene: GIGYF2
Variant information Variant position: help 457 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Asparagine (N) to Threonine (T) at position 457 (N457T, p.Asn457Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In PARK11; unknown pathological significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 457 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1299 The length of the canonical sequence.
Location on the sequence: help LSQIPSDTASPLLILPPPVP N PSPTLRPVETPVVGAPGMGS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LSQ-----IPSDTASPLLIL---PPPVPNPSPTLRPVETPVVGAPGM-------------GS

Mouse                         STP-----LPPDTASPLLIL---SPPVPTPSSASRPVETAA



Sequence annotation in neighborhood: help 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.
Chain 2 – 1299 GRB10-interacting GYF protein 2

Literature citations
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
Lautier C.; Goldwurm S.; Duerr A.; Giovannone B.; Tsiaras W.G.; Pezzoli G.; Brice A.; Smith R.J.;
Am. J. Hum. Genet. 82:822-833(2008)
Cited for: VARIANTS PARK11 ALA-112; VAL-278; THR-335; THR-457; GLU-606 AND ILE-1242; VARIANTS SER-56; THR-460; ARG-1171; GLN-1211 DEL AND GLN-1212 INS; 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;
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.