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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM11: Variant p.Asp187Gly

Fizzy-related protein homolog
Gene: FZR1
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Variant information Variant position: help 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Aspartate (D) to Glycine (G) at position 187 (D187G, p.Asp187Gly). 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 Change from medium size and acidic (D) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 DEE109; loss-of-function variant affecting cell cycle regulation; unable to rescue aberrant cell cycle in FZR1-deficient mouse cortical cells; decreased protein levels in patient cells. Any additional useful information about the variant.


Sequence information Variant position: help 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 496 The length of the canonical sequence.
Location on the sequence: help PTRKISKIPFKVLDAPELQD D FYLNLVDWSSLNVLSVGLGT 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                         PTRKISKIPFKVLDAPELQDDFYLNLVDWSSLNVLSVGLGT

Mouse                         PTRKISKIPFKVLDAPELQDDFYLNLVDWSSLNVLSVGLGT
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.
TypePositionsDescription
Chain 1 – 496 Fizzy-related protein homolog
Repeat 182 – 222 WD 1
Alternative sequence 130 – 218 Missing. In isoform 3.



Literature citations
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.
Rodriguez C.; Sanchez-Moran I.; Alvarez S.; Tirado P.; Fernandez-Mayoralas D.M.; Calleja-Perez B.; Almeida A.; Fernandez-Jaen A.;
J. Neurochem. 151:103-115(2019)
Cited for: VARIANT DEE109 GLY-187; CHARACTERIZATION OF VARIANT DEE109 GLY-187; INVOLVEMENT IN DEE109;
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.