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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78508: Variant p.Thr164Ile

ATP-sensitive inward rectifier potassium channel 10
Gene: KCNJ10
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Variant information Variant position: help 164 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help 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: help 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: help -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: help In SESAMES; no effect on localization to the basolateral membrane in kidney cells; the orthologous rat mutation results in decreased potassium ion transport and a shift to a more alkaline pH for channel activation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 164 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 379 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH

Mouse                         IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH

Rat                           IVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIRFSQH
Sequence annotation in neighborhood: help 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 141 – 166 Helical; Name=M2
Binding site 168 – 168
Binding site 171 – 171
Binding site 173 – 173
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; 199-ARG--VAL-379 DEL AND CYS-297; INVOLVEMENT IN SESAMES; Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
Sala-Rabanal M.; Kucheryavykh L.Y.; Skatchkov S.N.; Eaton M.J.; Nichols C.G.;
J. Biol. Chem. 285:36040-36048(2010)
Cited for: CHARACTERIZATION OF VARIANTS SESAMES 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.