UniProtKB/Swiss-Prot Q8N3J5: Variant p.Glu321Lys

Protein phosphatase Mn(2+)-dependent 1K
Gene: PPM1K
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Variant information Variant position:

321 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 Glutamate (E) to Lysine (K) at position 321 (E321K, p.Glu321Lys). 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:

Results in impaired serine/threonine phosphatase activity toward BCKDHA in response to high levels of branched-chain ketoacids. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs35523553 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NFMVNSQEICDFVNQCHDPN E AAHAVTEQAIQYGTEDNSTA 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                         NFMVNSQEICDFVNQCHDPNEAAHAVTEQAIQYGTEDNSTA

Mouse                         NFMVNSQEICDFVNQCHDPKEAAHSVTEQAIQYGTEDNSTA

Rat                           NFMVNSQEICDFVNQCHDPKEAAHAVTEQAIQYGTEDNSTA

Bovine                        NFMVNSQEICDFVNQCHDPNEAAHAVTEQAIQYGTEDNTTA

Xenopus laevis                NFIVNSQEICDIINQCHDPKEAAQVLTEQAIQYGTEDNSTA

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	30 – 372	Protein phosphatase Mn(2+)-dependent 1K
Domain	94 – 346	PPM-type phosphatase
Binding site	337 – 337
Alternative sequence	151 – 372	Missing. In isoform 3.
Alternative sequence	234 – 372	Missing. In isoform 2.
Mutagenesis	337 – 337	D -> A. Loss of serine/threonine phosphatase activity toward BCKDHA.
Helix	319 – 332

Literature citations
Tissue-specific and nutrient regulation of the branched-chain alpha-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).
Zhou M.; Lu G.; Gao C.; Wang Y.; Sun H.;
J. Biol. Chem. 287:23397-23406(2012)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH DBT AND BCKDHA; REGION; CHARACTERIZATION OF VARIANTS LYS-94; THR-167 AND LYS-321;

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.