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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Val280Glu

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 280
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Glutamate (E) at position 280 (V280E, p.Val280Glu).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to medium size and acidic (E)
BLOSUM score: help -2
Variant description: help In LQT1.
Other resources: help


Sequence information Variant position: help 280
Protein sequence length: help 676
Location on the sequence: help QELITTLYIGFLGLIFSSYF V YLAEKDAVNESGRVEFGSYA
Residue conservation: help 
Human                         QELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA

Mouse                         QELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRIEFGSYA

Rat                           QELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRIEFGSYA

Pig                           QELITTLYIGFLGLIFSSYFVYLAEKDAVNESGQVEFGSYA

Rabbit                        QELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA

Xenopus laevis                QELITTLYIGFLGLIFSSYFVYLAEKDAIDSSGEYQFGSYA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 676 Potassium voltage-gated channel subfamily KQT member 1
Transmembrane 261 – 283 Helical; Name=Segment S5
Glycosylation 289 – 289 N-linked (GlcNAc...) asparagine
Helix 246 – 284



Literature citations
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C.; Priori S.G.; Schwartz P.J.; Bloise R.; Ronchetti E.; Nastoli J.; Bottelli G.; Cerrone M.; Leonardi S.;
JAMA 294:2975-2980(2005)
Cited for: VARIANTS LQT1 THR-46; PHE-137; LYS-146; ASP-173; PRO-174; TRP-190; PRO-192; HIS-202; MET-204; PHE-209; MET-215; HIS-231; PRO-239; LEU-254; ARG-258; ASN-258; VAL-262; ASP-272; TRP-277; GLU-280; GLU-287; THR-302; ASP-308; GLU-316; MET-322; ARG-343; LEU-343; PRO-349; ARG-350; SER-351; THR-360; ASP-372; MET-393; GLY-518; PRO-518; ASP-548; ALA-554; THR-567; LEU-573; HIS-583 AND ASP-586; 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.