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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Pro320Ala

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 320 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 Proline (P) to Alanine (A) at position 320 (P320A, p.Pro320Ala). 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 hydrophobic (P) to small size and hydrophobic (A) 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 LQT1; loss of function mutation acting in a dominant-negative manner. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 676 The length of the canonical sequence.
Location on the sequence: help ADALWWGVVTVTTIGYGDKV P QTWVGKTIASCFSVFAISFF 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                         ADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF

Mouse                         ADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF

Rat                           ADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF

Pig                           ADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF

Rabbit                        ADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF

Xenopus laevis                ADALWWGVVTVTTIGYGDKVPQTWIGKTIASCFSVFAISFF
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 – 676 Potassium voltage-gated channel subfamily KQT member 1
Intramembrane 300 – 320 Pore-forming; Name=Segment H5
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.
Mutagenesis 328 – 328 I -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
Mutagenesis 338 – 338 S -> C. Inhibits voltage-gated potassium channel activity.
Mutagenesis 340 – 340 F -> C. Inhibits voltage-gated potassium channel activity.



Literature citations
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
Donger C.; Denjoy I.; Berthet M.; Neyroud N.; Cruaud C.; Bennaceur M.; Chivoret G.; Schwartz K.; Coumel P.; Guicheney P.;
Circulation 96:2778-2781(1997)
Cited for: VARIANTS LQT1 ARG-168; CYS-174; GLN-190; MET-254; LYS-261; ASP-269; ARG-309; SER-314; SER-315; ALA-320; ARG-325; VAL-341; PHE-342; VAL-344; THR-371 AND CYS-555; Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.
Thomas D.; Khalil M.; Alter M.; Schweizer P.A.; Karle C.A.; Wimmer A.B.; Licka M.; Katus H.A.; Koenen M.; Ulmer H.E.; Zehelein J.;
J. Mol. Cell. Cardiol. 48:230-237(2010)
Cited for: VARIANT LQT1 HIS-320; CHARACTERIZATION OF VARIANTS LQT1 ALA-320 AND HIS-320;
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.