UniProtKB/SwissProt variant VAR

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

92
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Arginine (R) at position 92 (H92R, p.His92Arg).
Physico-chemical properties:

Change from medium size and polar (H) to large size and basic (R)
BLOSUM score:

0
Variant description:

In IECEE1.
Other resources:

Variant rs1553925558 [ dbSNP | Ensembl ]

Sequence information Variant position:

92
Protein sequence length:

521
Location on the sequence:

LRQEKNLLDIDAPVTVCGDI H GQFFDLMKLFEVGGSPANTR
Residue conservation:

Human                         LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPANTR

Mouse                         LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Rat                           LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Bovine                        LRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFE--VGGSPAN

Slime mold                    LEKEPTLIQVEAPITVCGDTHGQFYDLIKIFENDIGGNPAN

Sequence annotation in neighborhood:

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