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UniProtKB/Swiss-Prot O60828: Variant p.Pro244Leu

Polyglutamine-binding protein 1
Gene: PQBP1
Chromosomal location: Xp11.23
Variant information

Variant position:  244
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 244 (P244L, p.Pro244Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  Probable disease-associated mutation found in a patient with autism.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  244
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  265
The length of the canonical sequence.

Location on the sequence:   RNEAKTGADTTAAGPLFQQR  P YPSPGAVLRANAEASRTKQQ
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                         RNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQ

Gorilla                       RNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQ

Mouse                         RNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQ

Rat                           RNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRSKQQ

Bovine                        RNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQ

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 2 – 265 Polyglutamine-binding protein 1
Region 94 – 265 Intrinsically disordered
Modified residue 247 – 247 Phosphoserine
Alternative sequence 61 – 265 Missing. In isoform 10.
Alternative sequence 68 – 265 Missing. In isoform 9.
Alternative sequence 74 – 265 Missing. In isoform 8.
Alternative sequence 129 – 265 Missing. In isoform 7.
Alternative sequence 150 – 265 Missing. In isoform 6.
Alternative sequence 225 – 265 Missing. In isoform 3.
Mutagenesis 245 – 245 Y -> D. Abolishes interaction with TXNL4A.
Mutagenesis 248 – 248 P -> D. Abolishes interaction with TXNL4A.
Mutagenesis 251 – 251 V -> D. Abolishes interaction with TXNL4A.
Mutagenesis 252 – 252 L -> D. Abolishes interaction with TXNL4A.
Mutagenesis 253 – 253 R -> D. Strongly reduces affinity for TXNL4A.
Mutagenesis 255 – 255 N -> D. Strongly reduces affinity for TXNL4A.


Literature citations

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
D'Gama A.M.; Pochareddy S.; Li M.; Jamuar S.S.; Reiff R.E.; Lam A.T.; Sestan N.; Walsh C.A.;
Neuron 88:910-917(2015)
Cited for: VARIANT LEU-244;

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.