UniProtKB/Swiss-Prot Q02952: Variant p.Lys117Glu

A-kinase anchor protein 12
Gene: AKAP12
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Variant information Variant position:

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

LB/B 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 Lysine (K) to Glutamate (E) at position 117 (K117E, p.Lys117Glu). 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 basic (K) to medium size and acidic (E) 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
Other resources:

Links to websites of interest for the variant.

Variant rs10872670 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1782 The length of the canonical sequence.
Location on the sequence:

QEEEEVIVTEVGQRDSEDVS K RDSDKEMATKSAVVHDITDD 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                         QEEEEVIVTEVGQRDSEDVSKRDSDKEMATKSAVVHDITDD

Mouse                         --EEEVTVEDVGQRESEDVKEKDRAKEMAASSTVVEDITKD

Rat                           --EEEVVDEDVGQRESEDVREKDRVEEMAANSTAVEDITKD

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 – 1782	A-kinase anchor protein 12
Region	71 – 169	Disordered
Compositional bias	103 – 139	Basic and acidic residues
Alternative sequence	106 – 106	E -> M. In isoform 3.

Literature citations
Gravin, an autoantigen recognized by serum from myasthenia gravis patients, is a kinase scaffold protein.
Nauert J.B.; Klauck T.M.; Langeberg L.K.; Scott J.D.;
Curr. Biol. 7:52-62(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLU-117; GLN-216 AND SER-987; Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method.
Nakajima D.; Saito K.; Yamakawa H.; Kikuno R.F.; Nakayama M.; Ohara R.; Okazaki N.; Koga H.; Nagase T.; Ohara O.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS GLU-117; GLN-216 AND ASP-1600; Sequence of gravin cDNA isolated from a human umbilical vein endothelial cell library.
Bowditch R.D.; Ginsberg M.H.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 43-1782; VARIANTS GLU-117 AND GLN-216; An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.; Song C.; Cheng K.; Dong M.; Wang F.; Huang J.; Sun D.; Wang L.; Ye M.; Zou H.;
J. Proteomics 96:253-262(2014)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154; SER-483; SER-598; SER-612; SER-627; SER-696; SER-697; SER-698; SER-761; SER-1328; SER-1395 AND SER-1587; VARIANT [LARGE SCALE ANALYSIS] GLU-117; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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