Variant position: 485 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1203 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 YSYALFKAMSHMLCIGYGRQ APVGMSDVWLTMLSMIVGATC
Mouse YSYALFKAMSHMLCIGYGRQ APVGMSDVWLTMLSMIVGATC
Rat YSYALFKAMSHMLCIGYGRQ APVGMSDVWLTMLSMIVGATC
Rabbit YSYALFKAMSHMLCIGYGRQ APMGMSDVWLTMLSMIVGATC
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 – 1203 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4
465 – 486 Pore-forming; Name=Segment H5
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.
Laish-Farkash A.; Glikson M.; Brass D.; Marek-Yagel D.; Pras E.; Dascal N.; Antzelevitch C.; Nof E.; Reznik H.; Eldar M.; Luria D.;
J. Cardiovasc. Electrophysiol. 21:1365-1372(2010)
Cited for: VARIANT SSS2 VAL-485; CHARACTERIZATION OF VARIANT SSS2 VAL-485;
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.