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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q4VXU2: Variant p.Ser137Phe

Polyadenylate-binding protein 1-like
Gene: PABPC1L
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Variant information Variant position: help 137 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 Serine (S) to Phenylalanine (F) at position 137 (S137F, p.Ser137Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 OZEMA22; pathogenic; the orhologous mouse mutation results in female infertility due to early embryonic arrest; results in decreased translation activation; decreased poly(A) binding; no effect on cytoplasmic localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 619 The length of the canonical sequence.
Location on the sequence: help DTFSTFGNILSCKVACDEHG S RGFGFVHFETHEAAQQAINT 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                         DTFSTFGNILSCKVACDEHGSRGFGFVHFETHEAAQQAINT

Mouse                         DTFSTFGSILSSKVVYNEHGSRGFGFVHFETHEAAQKAINT
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 – 619 Polyadenylate-binding protein 1-like
Domain 99 – 175 RRM 2



Literature citations
Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.
Wang W.; Guo J.; Shi J.; Li Q.; Chen B.; Pan Z.; Qu R.; Fu J.; Shi R.; Xue X.; Mu J.; Zhang Z.; Wu T.; Wang W.; Zhao L.; Li Q.; He L.; Sun X.; Sang Q.; Lin G.; Wang L.;
EMBO Mol. Med. 15:e17177-e17177(2023)
Cited for: FUNCTION; VARIANTS OZEMA22 ASP-97; PHE-137; 176-ARG--HIS-614 DEL AND GLN-374; CHARACTERIZATION OF VARIANTS OZEMA22 ASP-97; PHE-137 AND GLN-374; INVOLVEMENT IN OZEMA22; SUBCELLULAR LOCATION;
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.