Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2353 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 FFIVVAGMMEYSLDGHNVSL SAIRTVRVLRPLRAINRVPSM
Mouse FFIVMAGMMEYSLDGHNVSL SAIRTVRVLRPLRAINRVPSM
Rat FFIVMAGMMEYSLDGHNVSL SAIRTVRVLRPLRAINRVPSM
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 – 2353 Voltage-dependent T-type calcium channel subunit alpha-1H
194 – 212 Helical; Name=S4 of repeat I
87 – 422 I
189 – 189 Zinc
191 – 191 Zinc
192 – 192 N-linked (GlcNAc...) asparagine
CACNA1H mutations are associated with different forms of primary aldosteronism.
Daniil G.; Fernandes-Rosa F.L.; Chemin J.; Blesneac I.; Beltrand J.; Polak M.; Jeunemaitre X.; Boulkroun S.; Amar L.; Strom T.M.; Lory P.; Zennaro M.C.;
Cited for: VARIANTS HALD4 LEU-196; ILE-1549 AND LEU-2083; VARIANT GLU-1951; CHARACTERIZATION OF VARIANTS HALD4 LEU-196; ILE-1549 AND LEU-2083; CHARACTERIZATION OF VARIANT GLU-1951; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.