UniProtKB/Swiss-Prot O60828: Variant p.Pro244Leu

Polyglutamine-binding protein 1
Gene: PQBP1
Feedback?

Variant information Variant position:

244 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 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:

Found in a patient with autism; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs878853145 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
Chain	2 – 265	Polyglutamine-binding protein 1
Region	94 – 265	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.