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UniProtKB/Swiss-Prot Q9Y5B6: Variant p.Arg538Cys

PAX3- and PAX7-binding protein 1
Gene: PAXBP1
Variant information

Variant position:  538
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Cysteine (C) at position 538 (R538C, p.Arg538Cys).
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:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Found in a family with global developmental delay and myopathic hypotonia; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  538
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  917
The length of the canonical sequence.

Location on the sequence:   RALYQEHAKRRIAEREARRT  R RRQAREQTGKMADHLEGLSS
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                         RALYQEHAKRRIAEREARRTRRRQAREQTGKMADHLEGLSS

Mouse                         RALYQEHAKRRIAEREARRTRRRQAREQTGQMADHLEGLSS

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.

TypePositionsDescription
Chain 1 – 917 PAX3- and PAX7-binding protein 1
Region 378 – 558 Necessary and sufficient for interaction with PAX7
Region 530 – 564 Disordered
Compositional bias 530 – 559 Basic and acidic residues
Modified residue 557 – 557 Phosphoserine
Modified residue 558 – 558 Phosphoserine
Alternative sequence 470 – 917 Missing. In isoform 3.
Alternative sequence 512 – 917 Missing. In isoform 4.


Literature citations

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Alharby E.; Albalawi A.M.; Nasir A.; Alhijji S.A.; Mahmood A.; Ramzan K.; Abdusamad F.; Aljohani A.; Abdelsalam O.; Eldardear A.; Basit S.;
Clin. Genet. 92:579-586(2017)
Cited for: VARIANT CYS-538;

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.