UniProtKB/Swiss-Prot Q9Y243: Variant p.Glu17Lys

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

17 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 Glutamate (E) to Lysine (K) at position 17 (E17K, p.Glu17Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 MPPH2 and melanoma; results in activation of AKT. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs397514606 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSDVTIVKEGWVQKRG E YIKNWRPRYFLLKTDGSFIG 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                         MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIG

Mouse                         MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIG

Rat                           MSDVTIVKEDWVQKRGEYIKNWRPRYFLLKTDGSFIG

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
Initiator methionine	1 – 1	Removed
Chain	2 – 479	RAC-gamma serine/threonine-protein kinase
Domain	5 – 107	PH
Modified residue	2 – 2	N-acetylserine
Beta strand	17 – 30

Literature citations
A novel AKT3 mutation in melanoma tumours and cell lines.
Davies M.A.; Stemke-Hale K.; Tellez C.; Calderone T.L.; Deng W.; Prieto V.G.; Lazar A.J.; Gershenwald J.E.; Mills G.B.;
Br. J. Cancer 99:1265-1268(2008)
Cited for: VARIANT MELANOMA LYS-17; CHARACTERIZATION OF VARIANT MELANOMA LYS-17; De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
Lee J.H.; Huynh M.; Silhavy J.L.; Kim S.; Dixon-Salazar T.; Heiberg A.; Scott E.; Bafna V.; Hill K.J.; Collazo A.; Funari V.; Russ C.; Gabriel S.B.; Mathern G.W.; Gleeson J.G.;
Nat. Genet. 44:941-945(2012)
Cited for: VARIANT MPPH2 LYS-17; Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A.; Evrony G.D.; Cai X.; Elhosary P.C.; Beroukhim R.; Lehtinen M.K.; Hills L.B.; Heinzen E.L.; Hill A.; Hill R.S.; Barry B.J.; Bourgeois B.F.; Riviello J.J.; Barkovich A.J.; Black P.M.; Ligon K.L.; Walsh C.A.;
Neuron 74:41-48(2012)
Cited for: VARIANT MPPH2 LYS-17;

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.