Variant position: 672 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 LADGSYFGEICLLTRGRRTA SVRADTYCRLYSLSVDNFNEV
Mouse LADGSYFGEICLLTRGRRTA SVRADTYCRLYSLSVDNFNEV
Rat LADGSYFGEICLLTRGRRTA SVRADTYCRLYSLSVDNFNEV
Rabbit LADGSYFGEICLLTRGRRTA SVRADTYCRLYSLSVDNFNEV
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
518 – 1203 Cytoplasmic
670 – 677
Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel.
Xu X.; Marni F.; Wu S.; Su Z.; Musayev F.; Shrestha S.; Xie C.; Gao W.; Liu Q.; Zhou L.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 521-724; CHARACTERIZATION OF VARIANT SSS2 ARG-672;
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.
Milanesi R.; Baruscotti M.; Gnecchi-Ruscone T.; DiFrancesco D.;
N. Engl. J. Med. 354:151-157(2006)
Cited for: VARIANT SSS2 ARG-672; FUNCTION; ENZYME REGULATION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT SSS2 ARG-672;
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.