UniProtKB/Swiss-Prot P48544: Variant p.Val259Met

G protein-activated inward rectifier potassium channel 4
Gene: KCNJ5
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Variant information Variant position:

259 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 Valine (V) to Methionine (M) at position 259 (V259M, p.Val259Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

Found in patients with hypertension with ACTH-dependent aldosterone hypersecretion; uncertain significance; no effect on channel function. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs759363415 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IKSRQTKEGEFIPLNQTDIN V GFDTGDDRLFLVSPLIISHE 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                         IKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHE

Mouse                         IKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHE

Rat                           IKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHE

Pig                           IKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHE

Bovine                        IKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIICHE

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	1 – 419	G protein-activated inward rectifier potassium channel 4
Topological domain	186 – 419	Cytoplasmic

Literature citations
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.
Sertedaki A.; Markou A.; Vlachakis D.; Kossida S.; Campanac E.; Hoffman D.A.; Sierra M.L.; Xekouki P.; Stratakis C.A.; Kaltsas G.; Piaditis G.P.; Chrousos G.P.; Charmandari E.;
Clin. Endocrinol. (Oxf.) 85:845-851(2016)
Cited for: VARIANTS MET-259 AND ASN-348; CHARACTERIZATION OF VARIANTS MET-259 AND ASN-348; INVOLVEMENT IN HYPERTENTION WITH ACTH-DEPENDENT ALDOSTERONE HYPERSECRETION; FUNCTION;

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.