UniProtKB/SwissProt variant VAR

RAC-gamma serine/threonine-protein kinase
Gene: AKT3
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Variant information Variant position:

229
Type of variant:

LP/P [Disclaimer]
Residue change:

From Asparagine (N) to Serine (S) at position 229 (N229S, p.Asn229Ser).
Physico-chemical properties:

Change from medium size and polar (N) to small size and polar (S)
BLOSUM score:

1
Variant description:

In MPPH2.
Other resources:

Variant rs397514605 [ dbSNP | Ensembl ]

Sequence information Variant position:

229
Protein sequence length:

479
Location on the sequence:

TSLKYSFQTKDRLCFVMEYV N GGELFFHLSRERVFSEDRTR
Residue conservation:

Human                         TSLKYSFQTKDRLCFVMEYVNGGELFFHLSRERVFSEDRTR

Mouse                         TSLKYSFQTKDRLCFVMEYVNGGELFFHLSRERVFSEDRTR

Rat                           TSLKYSFQTKDRLCFVMEYVNGGELFFHLSRERVFSEDRTR

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 479	RAC-gamma serine/threonine-protein kinase
Domain	148 – 405	Protein kinase

Literature citations
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Riviere J.B.; Mirzaa G.M.; O'Roak B.J.; Beddaoui M.; Alcantara D.; Conway R.L.; St-Onge J.; Schwartzentruber J.A.; Gripp K.W.; Nikkel S.M.; Worthylake T.; Sullivan C.T.; Ward T.R.; Butler H.E.; Kramer N.A.; Albrecht B.; Armour C.M.; Armstrong L.; Caluseriu O.; Cytrynbaum C.; Drolet B.A.; Innes A.M.; Lauzon J.L.; Lin A.E.; Mancini G.M.; Meschino W.S.; Reggin J.D.; Saggar A.K.; Lerman-Sagie T.; Uyanik G.; Weksberg R.; Zirn B.; Beaulieu C.L.; Majewski J.; Bulman D.E.; O'Driscoll M.; Shendure J.; Graham J.M. Jr.; Boycott K.M.; Dobyns W.B.;
Nat. Genet. 44:934-940(2012)
Cited for: VARIANTS MPPH2 SER-229 AND TRP-465; AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
Nakamura K.; Kato M.; Tohyama J.; Shiohama T.; Hayasaka K.; Nishiyama K.; Kodera H.; Nakashima M.; Tsurusaki Y.; Miyake N.; Matsumoto N.; Saitsu H.;
Clin. Genet. 85:396-398(2014)
Cited for: VARIANT MPPH2 SER-229;

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 Q9Y243: Variant p.Asn229Ser