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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Gly314Ser

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 314 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 Glycine (G) to Serine (S) at position 314 (G314S, p.Gly314Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In LQT1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 314 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 VEFGSYADALWWGVVTVTTI G YGDKVPQTWVGKTIASCFSV 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                         VEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV

Mouse                         IEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV

Rat                           IEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV

Pig                           VEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV

Rabbit                        VEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV

Xenopus laevis                YQFGSYADALWWGVVTVTTIGYGDKVPQTWIGKTIASCFSV

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
Motif 312 – 317 Selectivity filter
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.



Literature citations
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
Itoh T.; Tanaka T.; Nagai R.; Kikuchi K.; Ogawa S.; Okada S.; Yamagata S.; Yano K.; Yazaki Y.; Nakamura Y.;
Hum. Genet. 103:290-294(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2); VARIANTS LQT1 ASN-242; HIS-250; SER-314 AND MET-587; VARIANT SER-643; KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
Russell M.W.; Dick M. II; Collins F.S.; Brody L.C.;
Hum. Mol. Genet. 5:1319-1324(1996)
Cited for: VARIANTS LQT1 SER-314 AND VAL-341; 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; Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
Splawski I.; Shen J.; Timothy K.W.; Vincent G.M.; Lehmann M.H.; Keating M.T.;
Genomics 51:86-97(1998)
Cited for: VARIANTS LQT1 ARG-168; SER-314; CYS-315; ASN-318; PRO-353 AND TRP-366; Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed R.J.E.; Wilde A.A.M.; Geelen J.L.M.C.; Doevendans P.; Schaap C.; van Langen I.; van Tintelen J.P.; Cobben J.M.; Beaufort-Krol G.C.M.; Geraedts J.P.M.; Smeets H.J.M.;
Hum. Mutat. 13:301-310(1999)
Cited for: VARIANTS LQT1 SER-184; ARG-189; SER-314; SER-315; ARG-345; PRO-373 AND ARG-392; Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester D.J.; Will M.L.; Haglund C.M.; Ackerman M.J.;
Heart Rhythm 2:507-517(2005)
Cited for: VARIANTS LQT1 71-ALA--PRO-73 DEL; THR-73; GLY-115; TYR-122; ILE-133; PHE-136; LYS-160; ARG-168; CYS-174; GLN-190; PHE-204; LEU-225; ASN-235; ASN-242; CYS-243; MET-254; 254-VAL--PHE-256 DEL; CYS-259; LEU-259; ASP-261; PRO-266; SER-269; ASP-269; PHE-273; ARG-273; SER-276 DEL; LEU-277; HIS-278; LYS-290; ASP-292; CYS-293; VAL-302; ARG-304; SER-305; ILE-312; SER-314; ARG-314; ASP-314; CYS-315; ARG-316; ALA-322; PHE-339 DEL; VAL-341; SER-343; GLU-344; VAL-344; GLU-345; TRP-349; PRO-353; ARG-362; TRP-366; HIS-374; SER-380; TYR-389; TRP-452; GLY-524; GLU-526; TRP-539; LEU-546; CYS-555; HIS-555; TYR-566; SER-567; ARG-568; MET-587; THR-590; HIS-591; GLN-594; MET-619 AND SER-626; Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G.; Chevalier P.; Restier-Miron L.; Da Costa A.; Bouvagnet P.; Kugener B.; Fayol L.; Gonzalez Armengod C.; Oddou B.; Chanavat V.; Froidefond E.; Perraudin R.; Rousson R.; Rodriguez-Lafrasse C.;
Clin. Genet. 70:214-227(2006)
Cited for: VARIANTS LQT1 CYS-231; PRO-243; CYS-259; HIS-259; PHE-273; SER-314; GLU-316; VAL-341; VAL-344 AND SER-626; Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT1 VAL-2; SER-7; THR-46; 64-PRO--PRO-70 DEL; PHE-66; THR-73; CYS-111; LEU-117; LEU-127; ILE-133; PRO-134; ALA-144; MET-153; MET-162; ARG-168; MET-172; CYS-174; HIS-174; THR-178; SER-179; HIS-184; ARG-186; GLN-190; LEU-190; TRP-195; VAL-198; ALA-199; MET-204; MET-215; MET-224; LEU-225; CYS-231; HIS-231; ASN-235; GLY-241; ASN-242; CYS-243; PRO-250; MET-254; CYS-259; LEU-259; VAL-262; PRO-266; SER-268; ASP-269; SER-269; ASP-272; PHE-273; VAL-274; LEU-277; PRO-277; GLU-280; CYS-281; PRO-282; GLY-283; ASP-292; CYS-293; GLU-302; VAL-302; PRO-303; ARG-305; SER-305; ARG-306; ILE-312; CYS-314; SER-314; CYS-315; VAL-316; SER-320; ALA-322; MET-322; ARG-325; TYR-339; GLU-341; GLY-341; VAL-341; PHE-342; LEU-343; ARG-350; SER-351; ARG-354; MET-360; ARG-362; HIS-365; GLN-366; TRP-366; HIS-374; GLY-379; LYS-385; PRO-389; THR-391 INS; TRP-397; ARG-398; GLU-446; LEU-448; TRP-451; SER-460; LEU-477; TRP-511; GLN-518; ARG-520; SER-522; GLY-524; THR-525; VAL-525; TRP-533; GLN-539; TRP-539; ILE-541; LYS-543; LEU-546; ARG-547; CYS-555; HIS-555; SER-555; GLU-557; PHE-566; PRO-566; TYR-566; THR-567; ARG-568; GLU-569; LEU-571; MET-587; ASP-589; CYS-591; HIS-591; GLN-594; PRO-594; GLU-596 DEL; LYS-596; MET-600; ASN-611; HIS-614 DEL; SER-626 AND ARG-635;
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.