Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30153: Variant p.Arg498Leu

Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
Gene: PPP2R1A
Feedback?
Variant information Variant position: help 498 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 Leucine (L) at position 498 (R498L, p.Arg498Leu). 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 hydrophobic (L) 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 HJS2; likely pathogenic; disrupts interaction with PPP2R5D and PPP2CA. Any additional useful information about the variant.


Sequence information Variant position: help 498 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 AHATIIPKVLAMSGDPNYLH R MTTLFCINVLSEVCGQDITT 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                         AHATIIPKVLAMSGD--PNYLHRMTTLFCINVLSEVCGQDITT

Mouse                         AHATIIPKVLAMSGD--PNYLHRMTTLFCINVLSEVCGQDI

Pig                           AHATIIPKVLAMSGD--PNYLHRMTTLFCINVLSEVCGQDI

Bovine                        AHATIIPKVLAMSGD--PNYLHRMTTLFCINVLSEVCGQDI

Caenorhabditis elegans        ASTNIVPKMQKLQKD--TNYLQRMTCLFCLNTLSEAMTQEQ

Drosophila                    AEQAIIPMILVMSRN--KNYLHRMTCLFCLNVLAEVCGTDI

Slime mold                    AKNNIIPKVLSLHSH--PNYLYRMTTLFSISTLSTVVGGDV

Baker's yeast                 CRDEIISRLLKFDLQLLENFVSRFTILSALTTLVPVVSLDV

Fission yeast                 ATETIIPKFLAMRSH--PNYLYRMTTIFAISEIAPALNAEV
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 2 – 589 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
Repeat 478 – 516 HEAT 13
Region 400 – 589 PP2A subunit C binding
Helix 495 – 520



Literature citations
Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.
Qian Y.; Jiang Y.; Wang J.; Li G.; Wu B.; Zhou Y.; Xu X.; Wang H.;
Genes (Basel) 14:1750-1750(2023)
Cited for: VARIANTS HJS2 VAL-180; THR-180; ALA-470 AND LEU-498; CHARACTERIZATION OF VARIANTS HJS2 THR-180; ALA-470 AND LEU-498; INTERACTION WITH PPP2R5D AND PPP2CA;
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.