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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51787: Variant p.Ala194Pro

Potassium voltage-gated channel subfamily KQT member 1
Gene: KCNQ1
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Variant information Variant position: help 194
Type of variant: help US
Residue change: help From Alanine (A) to Proline (P) at position 194 (A194P, p.Ala194Pro).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In LQT1; uncertain significance.
Other resources: help


Sequence information Variant position: help 194
Protein sequence length: help 676
Location on the sequence: help RLWSAGCRSKYVGLWGRLRF A RKPISIIDLIVVVASMVVLC
Residue conservation: help
Human                         RLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLC

Mouse                         RLWSAGCRSKYVGIWGRLRFARKPISIIDLIVVVASMVVLC

Rat                           RLWSAGCRSKYVGIWGRLRFARKPISIIDLIVVVASMVVLC

Pig                           RLWSAGCRSKYVGIWGRLRFARKPISIIDLIVVVASMVVLC

Rabbit                        RLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLC

Xenopus laevis                RLWSAGCRSKYVGVWGRLRFARKPISVIDLIVVVASVIVLC

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 676 Potassium voltage-gated channel subfamily KQT member 1
Transmembrane 193 – 218 Helical; Name=Segment S3
Helix 186 – 194



Literature citations
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I.; Shen J.; Timothy K.W.; Lehmann M.H.; Priori S.G.; Robinson J.L.; Moss A.J.; Schwartz P.J.; Towbin J.A.; Vincent G.M.; Keating M.T.;
Circulation 102:1178-1185(2000)
Cited for: VARIANTS LQT1 CYS-111; LYS-160; ARG-168; HIS-174; SER-179; SER-184; PRO-194; LEU-225; CYS-243; ARG-248; MET-254; PRO-266; ASP-269; PHE-273; ILE-310; ILE-312; ARG-325; GLU-341; VAL-341; TRP-349; GLN-366; ILE-391; ARG-448; PHE-566; CYS-583 AND GLN-594;
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.