Sequence information
Variant position: 604 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1078 The length of the canonical sequence.
Location on the sequence:
KCPDDFWSNENHTSCIAKEI
E FLSWTEPFGIALTLFAVLGI
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 KCPDDFWSNENHTSCIAKEIE FLSWTEPFGIALTLFAVLGI
Mouse KCPDDFWSNENHTSCIAKEIE FLAWTEPFGIALTLFAVLGI
Rat KCPDDFWSNENHTSCIAKEIE FLAWTEPFGIALTLFAVLGI
Pig KCPDDFWSNENHTSCIAKEIE FLSWTEPFGIALTLFAVLGI
Bovine KCPDDFWSNENHTSCIAKEIE FLSWTEPFGIALTLFAVLGI
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
Chain
20 – 1078
Extracellular calcium-sensing receptor
Topological domain
20 – 612
Extracellular
Region
542 – 612
Cysteine-rich (CR)
Glycosylation
594 – 594
N-linked (GlcNAc...) asparagine
Beta strand
602 – 604
Literature citations
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
Tan Y.M.; Cardinal J.; Franks A.H.; Mun H.-C.; Lewis N.; Harris L.B.; Prins J.B.; Conigrave A.D.;
J. Clin. Endocrinol. Metab. 88:605-610(2003)
Cited for: VARIANT HYPOC1 LYS-604; CHARACTERIZATION OF VARIANT HYPOC1 LYS-604;
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole D.E.; Yun F.H.; Wong B.Y.; Shuen A.Y.; Booth R.A.; Scillitani A.; Pidasheva S.; Zhou X.; Canaff L.; Hendy G.N.;
J. Mol. Endocrinol. 42:331-339(2009)
Cited for: VARIANTS HHC1 SER-42; LEU-55; HIS-66; MET-81; MET-138; ARG-143; ARG-158; GLY-166; TRP-220; ARG-549; TYR-562; GLY-565; TYR-582; 583-ASN--SER-1078 DEL; TYR-661; HIS-680; ILE-761 DEL AND TRP-795; VARIANTS HYPOC1 LYS-118; PHE-125; ARG-129; LYS-228; LYS-604; ILE-802; SER-830; LEU-832 AND SER-832;
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.