Variant position: 272 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 890 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 RALRIVRFTKILSLLRLLRL SRLIRYIHQWEEIFHMTYDLA
Mouse RALRIVRFTKILSLLRLLRL SRLIRYIHQWEEIFHMTYDLA
Rat RALRIVRFTKILSLLRLLRL SRLIRYIHQWEEIFHMTYDLA
Rabbit RALRIVRFTKILSLLRLLRL SRLIRYIHQWEEIFHMTYDLA
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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 – 890 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
261 – 281 Helical; Voltage-sensor; Name=Segment S4
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C.; Dalle C.; Rastetter A.; Striano P.; de Kovel C.G.; Nabbout R.; Cances C.; Ville D.; Brilstra E.H.; Gobbi G.; Raffo E.; Bouteiller D.; Marie Y.; Trouillard O.; Robbiano A.; Keren B.; Agher D.; Roze E.; Lesage S.; Nicolas A.; Brice A.; Baulac M.; Vogt C.; El Hajj N.; Schneider E.; Suls A.; Weckhuysen S.; Gormley P.; Lehesjoki A.E.; De Jonghe P.; Helbig I.; Baulac S.; Zara F.; Koeleman B.P.; Haaf T.; LeGuern E.; Depienne C.;
Nat. Genet. 46:640-645(2014)
Cited for: INVOLVEMENT IN EIEE24; VARIANTS EIEE24 VAL-47; PHE-100; PRO-272; TYR-279; THR-297 AND HIS-401; CHARACTERIZATION OF VARIANTS EIEE24 PHE-100; PRO-272; TYR-279; THR-297 AND HIS-401;
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.