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UniProtKB/Swiss-Prot P78508: Variant p.Thr164Ile

ATP-sensitive inward rectifier potassium channel 10
Gene: KCNJ10
Variant information

Variant position:  164
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Threonine (T) to Isoleucine (I) at position 164 (T164I, p.Thr164Ile).
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 (T) to medium size and hydrophobic (I)
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 SESAMES; no effect on localization to the basolateral membrane in kidney cells.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  164
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  379
The length of the canonical sequence.

Location on the sequence:   IVLLIAQLVLTTILEIFITG  T FLAKIARPKKRAETIRFSQH
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                         IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH

Mouse                         IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH

Rat                           IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH

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.

TypePositionsDescription
Chain 1 – 379 ATP-sensitive inward rectifier potassium channel 10
Transmembrane 143 – 164 Helical; Name=M2
Site 158 – 158 Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium


Literature citations

Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
Tanemoto M.; Abe T.; Uchida S.; Kawahara K.;
FEBS Lett. 588:899-905(2014)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SESAMES PRO-65; ARG-77; ARG-140; ILE-164; VAL-167 AND CYS-297; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH KCNJ16 AND MAGI1;

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Scholl U.I.; Choi M.; Liu T.; Ramaekers V.T.; Hausler M.G.; Grimmer J.; Tobe S.W.; Farhi A.; Nelson-Williams C.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 106:5842-5847(2009)
Cited for: VARIANTS SESAMES PRO-65; ARG-140; ILE-164; VAL-167 AND CYS-297;

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.