Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 103 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human YTRSRKVDKRSDPYHVYIKN RVSMI
Mouse YTRSRKVDKRSDPYHVYIKN RVSMI
Rat YTRSRKVDKRSDPYHVYIKN RVSMI
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 103 Potassium voltage-gated channel subfamily E member 3
79 – 103 Cytoplasmic
90 – 90 D -> N. Decreases current 4-fold in KCNH2/KCNE3 channel.
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
Delpon E.; Cordeiro J.M.; Nunez L.; Thomsen P.E.; Guerchicoff A.; Pollevick G.D.; Wu Y.; Kanters J.K.; Larsen C.T.; Hofman-Bang J.; Burashnikov E.; Christiansen M.; Antzelevitch C.;
Circ. Arrhythm. Electrophysiol. 1:209-218(2008)
Cited for: VARIANT BRGDA6 HIS-99;
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.
Ohno S.; Toyoda F.; Zankov D.P.; Yoshida H.; Makiyama T.; Tsuji K.; Honda T.; Obayashi K.; Ueyama H.; Shimizu W.; Miyamoto Y.; Kamakura S.; Matsuura H.; Kita T.; Horie M.;
Hum. Mutat. 30:557-563(2009)
Cited for: VARIANTS ALA-4; ARG-39 AND HIS-99;
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.