UniProtKB/Swiss-Prot Q15842: Variant p.Cys176Ser

ATP-sensitive inward rectifier potassium channel 8
Gene: KCNJ8
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Variant information Variant position:

176 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 Cysteine (C) to Serine (S) at position 176 (C176S, p.Cys176Ser). 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 polar (C) to small size and polar (S) 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 HTOCD; uncertain significance; displays gain of function; displays reduced ATP sensitivity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs606231264 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ITVLILQNIVGLIINAVMLG C IFMKTAQAHRRAETLIFSRH 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                         ITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRH

Mouse                         ITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRH

Rat                           ITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRH

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 – 424	ATP-sensitive inward rectifier potassium channel 8
Transmembrane	155 – 176	Helical; Name=M2
Site	170 – 170	Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium

Literature citations
Cantu syndrome resulting from activating mutation in the KCNJ8 gene.
Cooper P.E.; Reutter H.; Woelfle J.; Engels H.; Grange D.K.; van Haaften G.; van Bon B.W.; Hoischen A.; Nichols C.G.;
Hum. Mutat. 35:809-813(2014)
Cited for: POSSIBLE INVOLVEMENT IN HTOCD; VARIANT HTOCD SER-176; CHARACTERIZATION OF VARIANT HTOCD SER-176;

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.