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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WVV4: Variant p.Arg329Gln

Protein POF1B
Gene: POF1B
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Variant information Variant position: help 329 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 Arginine (R) to Glutamine (Q) at position 329 (R329Q, p.Arg329Gln). 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 large size and basic (R) to medium size and polar (Q) 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 POF2B; disrupts binding to nonmuscle actin filaments; abolishes tight junction localization; altered ciliogenesis and cystogenesis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 329 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 589 The length of the canonical sequence.
Location on the sequence: help FTKQQIRYILQMRGMSDKSL R LVLSTFSNIREELGHLQNDM 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                         FTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDM

Mouse                         FTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDL
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 – 589 Protein POF1B
Alternative sequence 307 – 589 Missing. In isoform 3.



Literature citations
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Bione S.; Rizzolio F.; Sala C.; Ricotti R.; Goegan M.; Manzini M.C.; Battaglia R.; Marozzi A.; Vegetti W.; Dalpra L.; Crosignani P.G.; Ginelli E.; Nappi R.; Bernabini S.; Bruni V.; Torricelli F.; Zuffardi O.; Toniolo D.;
Hum. Reprod. 19:2759-2766(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS SER-239; GLN-329; LEU-349; LYS-434 AND TYR-444; Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
Lacombe A.; Lee H.; Zahed L.; Choucair M.; Muller J.-M.; Nelson S.F.; Salameh W.; Vilain E.;
Am. J. Hum. Genet. 79:113-119(2006)
Cited for: FUNCTION; INTERACTION WITH ACTIN; VARIANT POF2B GLN-329; CHARACTERIZATION OF VARIANT POF2B GLN-329; The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.
Padovano V.; Lucibello I.; Alari V.; Della Mina P.; Crespi A.; Ferrari I.; Recagni M.; Lattuada D.; Righi M.; Toniolo D.; Villa A.; Pietrini G.;
J. Cell Sci. 124:3356-3368(2011)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT POF2B GLN-329;
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.