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UniProtKB/Swiss-Prot P51787: Variant p.Trp248Phe

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

Variant position:  248
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 Tryptophan (W) to Phenylalanine (F) at position 248 (W248F, p.Trp248Phe).
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:  Similar physico-chemical property. Both residues are large size and aromatic.
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 JLNS1; requires 2 nucleotide substitutions; does not affect plasma membrane localization; complete loss of outward currents; enhances outward currents when coexpressed with wild type at equimolar ratio.
Any additional useful information about the variant.

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



Sequence information

Variant position:  248
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:   RGIRFLQILRMLHVDRQGGT  W RLLGSVVFIHRQELITTLYI
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                         RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

Mouse                         RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

Rat                           RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

Pig                           RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

Rabbit                        RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

Xenopus laevis                RGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYI

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 246 – 257


Literature citations

A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S.; Kubota T.; Yoshida H.; Tsuji K.; Makiyama T.; Yamada S.; Kuga K.; Yamaguchi I.; Kita T.; Horie M.;
Circ. J. 72:687-693(2008)
Cited for: VARIANT JLNS1 PHE-248; CHARACTERIZATION OF VARIANT JLNS1 PHE-248;

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A.; Gharaie S.; Jeong Kim H.;
Front. Cell. Neurosci. 9:32-32(2015)
Cited for: CHARACTERIZATION OF VARIANTS LQT1 ASN-242; PRO-243; HIS-250; VAL-306; ASN-317; ASP-586 AND MET-619; CHARACTERIZATION OF VARIANTS JLNS1 PHE-248; ILE-311; MET-322 AND ASP-589;

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.