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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Ile567Ser

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 567
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Serine (S) at position 567 (I567S, p.Ile567Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In LQT1.
Other resources: help


Sequence information Variant position: help 567
Protein sequence length: help 676
Location on the sequence: help QGHLNLMVRIKELQRRLDQS I GKPSLFISVSEKSKDRGSNT
Residue conservation: help 
Human                         QGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNT

Mouse                         QGHLNLMVRIKELQRRLDQSIGKPSLFIPISEKSKDRGSNT

Rat                           QGHLNLMVRIKELQRRLDQSIGKPSLFIPISEKSKDRGSNT

Pig                           QGHLNLMVRIKELQRRLDQSIGRPALFISSSEKVKDRGSNT

Rabbit                        QGHLNLMVRIKELQRRLDQSIGKPSLFVPISEKSKDRGSNS

Xenopus laevis                QGHLNLMVRIKELQRRLDQSLGKPSLFLSVSDKVKDKGINT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 676 Potassium voltage-gated channel subfamily KQT member 1
Topological domain 349 – 676 Cytoplasmic
Region 535 – 572 Interaction with KCNE1 C-terminus



Literature citations
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;
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.