UniProtKB/Swiss-Prot Q13362: Variant p.Phe55Leu

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform
Gene: PPP2R5C
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Variant information Variant position:

55 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 Phenylalanine (F) to Leucine (L) at position 55 (F55L, p.Phe55Leu). 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 aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

In HJS4; uncertain significance; decreased interaction with PPP2CA and PPP2R1A. Any additional useful information about the variant.

Sequence information Variant position:

55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

524 The length of the canonical sequence.
Location on the sequence:

PADQEKLFIQKLRQCCVLFD F VSDPLSDLKWKEVKRAALSE 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                         PADQEKLFIQKLRQCCVLFDFVSDPLSDLKWKEVKRAALSE

Mouse                         PADQEKLFIQKLRQCCVLFDFVSDPLSDLKWKEVKRAALSE

Rabbit                        PADQEKLFIQKLRQCCVLFDFVSDPLSDLKWKEVKRAALSE

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	1 – 524	Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform
Beta strand	55 – 57

Literature citations
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I.; Douzgou Houge S.; Hsieh T.C.; Lesmann H.; Kirchhoff A.; Genevieve D.; Brimble E.; Lenaerts L.; Haesen D.; Levy R.J.; Thevenon J.; Faivre L.; Marco E.; Chong J.X.; Bamshad M.; Patterson K.; Mirzaa G.M.; Foss K.; Dobyns W.; White S.M.; Pais L.; O'Heir E.; Itzikowitz R.; Donald K.A.; Van der Merwe C.; Mussa A.; Cervini R.; Giorgio E.; Roscioli T.; Dias K.R.; Evans C.A.; Brown N.J.; Ruiz A.; Trujillo Quintero J.P.; Rabin R.; Pappas J.; Yuan H.; Lachlan K.; Thomas S.; Devlin A.; Wright M.; Martin R.; Karwowska J.; Posmyk R.; Chatron N.; Stark Z.; Heath O.; Delatycki M.; Buchert R.; Korenke G.C.; Ramsey K.; Narayanan V.; Grange D.K.; Weisenberg J.L.; Haack T.B.; Karch S.; Kipkemoi P.; Mangi M.; Bindels de Heus K.G.C.B.; de Wit M.Y.; Barakat T.S.; Lim D.; Van Winckel G.; Spillmann R.C.; Shashi V.; Jacob M.; Stehr A.M.; Krawitz P.; Douzgos Houge G.; Janssens V.;
Am. J. Hum. Genet. 112:554-571(2025)
Cited for: VARIANTS HJS4 ARG-49; 54-ASP-PHE-55 DEL; LEU-55; ARG-120; LYS-122; LYS-124; THR-126 DEL; ALA-130 DEL; ARG-131; ARG-133; PRO-133; LEU-133; PRO-134; LYS-174; VAL-175; TRP-177; LEU-177; GLU-244 AND LYS-344; CHARACTERIZATION OF VARIANTS HJS4 ARG-49; 54-ASP-PHE-55 DEL; LEU-55; LYS-122; THR-126 DEL; ALA-130 DEL; ARG-131; ARG-133; PRO-133; LEU-133; PRO-134; LYS-174; VAL-175; TRP-177 AND GLU-244; INVOLVEMENT IN HJS4;

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.