UniProtKB/SwissProt variant VAR

Protein phosphatase 3 catalytic subunit alpha
Gene: PPP3CA
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Variant information Variant position:

92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Histidine (H) to Arginine (R) at position 92 (H92R, p.His92Arg). 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 medium size and polar (H) to large size and basic (R) 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 IECEE1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1553925558 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LRQEKNLLDIDAPVTVCGDI H GQFFDLMKLFEVGGSPANTR 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                         LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPANTR

Mouse                         LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Rat                           LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Bovine                        LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Slime mold                    LEKEPTLIQVEAPITVCGDTHGQFYDLIKIFENDIGGNPAN

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 – 521	Protein phosphatase 3 catalytic subunit alpha
Region	56 – 340	Catalytic
Binding site	90 – 90
Binding site	92 – 92
Alternative sequence	87 – 318	Missing. In isoform 4.

Literature citations
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers C.T.; Stong N.; Mountier E.I.; Helbig K.L.; Freytag S.; Sullivan J.E.; Ben Zeev B.; Nissenkorn A.; Tzadok M.; Heimer G.; Shinde D.N.; Rezazadeh A.; Regan B.M.; Oliver K.L.; Ernst M.E.; Lippa N.C.; Mulhern M.S.; Ren Z.; Poduri A.; Andrade D.M.; Bird L.M.; Bahlo M.; Berkovic S.F.; Lowenstein D.H.; Scheffer I.E.; Sadleir L.G.; Goldstein D.B.; Mefford H.C.; Heinzen E.L.;
Am. J. Hum. Genet. 101:516-524(2017)
Cited for: INVOLVEMENT IN IECEE1; VARIANTS IECEE1 ARG-92; GLN-281; LYS-282; 445-GLN--GLN-521 DEL AND THR-447; Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T.; Nakashima M.; Kato M.; Okamoto N.; Kurahashi H.; Ekhilevitch N.; Shiina M.; Nishimura G.; Shibata T.; Matsuo M.; Ikeda T.; Ogata K.; Tsuchida N.; Mitsuhashi S.; Miyatake S.; Takata A.; Miyake N.; Hata K.; Kaname T.; Matsubara Y.; Saitsu H.; Matsumoto N.;
Hum. Mol. Genet. 27:1421-1433(2018)
Cited for: VARIANTS ACCIID LEU-470 AND THR-473; INVOLVEMENT IN ACCIID; VARIANTS IECEE1 ARG-92; ILE-150 AND GLU-234;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08209: Variant p.His92Arg