UniProtKB/Swiss-Prot B7U540: Variant p.Gly169Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 169 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 Glycine (G) to Arginine (R) at position 169 (G169R, p.Gly169Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2 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 a patient with hypokalemic periodic paralysis without hyperthyroidism; reduces potassium inward and outward currents density. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1311839715 [ dbSNP | Ensembl ]

Sequence information

Variant position: 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 433 The length of the canonical sequence.
Location on the sequence: RCVTEECLVAVFMVVAQSIV G CIIDSFMIGAIMAKMARPKK 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.
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 – 433	Inward rectifier potassium channel 18
Transmembrane	156 – 183	Helical; Name=M2
Mutagenesis	156 – 156	L -> P. Increased expression at the cell membrane.

Literature citations

A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
Zheng J.; Liang Z.; Hou Y.; Liu F.; Hu Y.; Lin P.; Yan C.;
Clin. Neurophysiol. 127:2503-2508(2016)
Cited for: VARIANT ARG-169; CHARACTERIZATION OF VARIANT ARG-169; CHARACTERIZATION OF VARIANTS TTPP2 126-GLN--HIS-344 DEL; THR-360 AND LYS-388;