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UniProtKB/Swiss-Prot P51787: Variant p.Arg243His

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
Variant information

Variant position:  243
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Histidine (H) at position 243 (R243H, p.Arg243His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 JLNS1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers).
Any additional useful information about the variant.

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



Sequence information

Variant position:  243
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  676
The length of the canonical sequence.

Location on the sequence:   ATSAIRGIRFLQILRMLHVD  R QGGTWRLLGSVVFIHRQELI
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                         ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

Mouse                         ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

Rat                           ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

Pig                           ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

Rabbit                        ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

Xenopus laevis                ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELI

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 – 676 Potassium voltage-gated channel subfamily KQT member 1
Transmembrane 226 – 248 Helical; Voltage-sensor; Name=Segment S4
Helix 243 – 245


Literature citations

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
Mohammad-Panah R.; Demolombe S.; Neyroud N.; Guicheney P.; Kyndt F.; van den Hoff M.; Baro I.; Escande D.;
Am. J. Hum. Genet. 64:1015-1023(1999)
Cited for: VARIANT JLNS1 HIS-243;

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Chouabe C.; Neyroud N.; Richard P.; Denjoy I.; Hainque B.; Romey G.; Drici M.-D.; Guicheney P.; Barhanin J.;
Cardiovasc. Res. 45:971-980(2000)
Cited for: VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539; VARIANT JLNS1 HIS-243; CHARACTERIZATION OF VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539; CHARACTERIZATION OF VARIANT JLNS1 HIS-243;

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.