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UniProtKB/Swiss-Prot P51787: Variant p.Val307Leu

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

Variant position:  307
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 Valine (V) to Leucine (L) at position 307 (V307L, p.Val307Leu).
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 medium size and hydrophobic.
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 SQT2; gain of function.
Any additional useful information about the variant.

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



Sequence information

Variant position:  307
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:   AVNESGRVEFGSYADALWWG  V VTVTTIGYGDKVPQTWVGKT
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                         AVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT

Mouse                         AVNESGRIEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT

Rat                           AVNESGRIEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT

Pig                           AVNESGQVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT

Rabbit                        AVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT

Xenopus laevis                AIDSSGEYQFGSYADALWWGVVTVTTIGYGDKVPQTWIGKT

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
Intramembrane 300 – 320 Pore-forming; Name=Segment H5
Glycosylation 289 – 289 N-linked (GlcNAc...) asparagine
Mutagenesis 324 – 324 V -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
Mutagenesis 326 – 326 K -> R. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
Mutagenesis 327 – 327 T -> V. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
Helix 299 – 310


Literature citations

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
Bellocq C.; van Ginneken A.C.G.; Bezzina C.R.; Alders M.; Escande D.; Mannens M.M.A.M.; Baro I.; Wilde A.A.M.;
Circulation 109:2394-2397(2004)
Cited for: VARIANT SQT2 LEU-307; CHARACTERIZATION OF VARIANT SQT2 LEU-307;

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.