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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95259: Variant p.Ile494Val

Voltage-gated delayed rectifier potassium channel KCNH1
Gene: KCNH1
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Variant information Variant position: help 494 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 Isoleucine (I) to Valine (V) at position 494 (I494V, p.Ile494Val). 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 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: help 3 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 TMBTS and ZLS1; gain-of-function effect; resulting in a decreased threshold of channel activation and slower deactivation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 989 The length of the canonical sequence.
Location on the sequence: help DIEKIFAVAIMMIGSLLYAT I FGNVTTIFQQMYANTNRYHE 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                         DIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHE

Mouse                         DIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHE

Rat                           DIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHE

Bovine                        DIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHE
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 – 989 Voltage-gated delayed rectifier potassium channel KCNH1
Transmembrane 478 – 498 Helical; Name=Segment S6



Literature citations
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C.; Rash L.D.; Crawford J.; Ma L.; Cristofori-Armstrong B.; Miller D.; Ru K.; Baillie G.J.; Alanay Y.; Jacquinet A.; Debray F.G.; Verloes A.; Shen J.; Yesil G.; Guler S.; Yuksel A.; Cleary J.G.; Grimmond S.M.; McGaughran J.; King G.F.; Gabbett M.T.; Taft R.J.;
Nat. Genet. 47:73-77(2015)
Cited for: INVOLVEMENT IN TMBTS; VARIANTS TMBTS ASN-217; PHE-489; VAL-494 AND ARG-503; CHARACTERIZATION OF VARIANTS TMBTS ASN-217; PHE-489; VAL-494 AND ARG-503; FUNCTION; TRANSPORTER ACTIVITY; Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortuem F.; Caputo V.; Bauer C.K.; Stella L.; Ciolfi A.; Alawi M.; Bocchinfuso G.; Flex E.; Paolacci S.; Dentici M.L.; Grammatico P.; Korenke G.C.; Leuzzi V.; Mowat D.; Nair L.D.; Nguyen T.T.; Thierry P.; White S.M.; Dallapiccola B.; Pizzuti A.; Campeau P.M.; Tartaglia M.; Kutsche K.;
Nat. Genet. 47:661-667(2015)
Cited for: INVOLVEMENT IN ZLS1; VARIANTS ZLS1 TYR-352; ARG-375; VAL-379; LEU-383; VAL-494 AND ARG-496; CHARACTERIZATION OF VARIANTS ZLS1 TYR-352; ARG-375; VAL-379; LEU-383; VAL-494 AND ARG-496; FUNCTION; TRANSPORTER ACTIVITY;
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.