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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98194: Variant p.Gly309Cys

Calcium-transporting ATPase type 2C member 1
Gene: ATP2C1
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Variant information Variant position: help 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Cysteine (C) at position 309 (G309C, p.Gly309Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HHD; impairs manganese-dependent autophosphorylation in the presence of ATP; impairs manganese transporter activity. Any additional useful information about the variant.


Sequence information Variant position: help 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 919 The length of the canonical sequence.
Location on the sequence: help KDILEMFTISVSLAVAAIPE G LPIVVTVTLALGVMRMVKKR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKR

Mouse                         KDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKR

Rat                           KDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKR

Bovine                        KDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 919 Calcium-transporting ATPase type 2C member 1
Transmembrane 295 – 312 Helical; Name=4
Binding site 303 – 303
Binding site 304 – 304
Binding site 306 – 306
Binding site 308 – 308



Literature citations
Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).
Fairclough R.J.; Dode L.; Vanoevelen J.; Andersen J.P.; Missiaen L.; Raeymaekers L.; Wuytack F.; Hovnanian A.;
J. Biol. Chem. 278:24721-24730(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 9); FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS HHD LEU-201; CYS-309; PRO-341; TYR-344; ARG-411; ILE-570; VAL-580; TYR-742 AND ARG-789; Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity.
Mukhopadhyay S.; Linstedt A.D.;
Proc. Natl. Acad. Sci. U.S.A. 108:858-863(2011)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; MUTAGENESIS OF ASP-350 AND GLN-747; CHARACTERIZATION OF VARIANT HHD CYS-309; Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Dobson-Stone C.; Fairclough R.; Dunne E.; Brown J.; Dissanayake M.; Munro C.S.; Strachan T.; Burge S.; Sudbrak R.; Monaco A.P.; Hovnanian A.;
J. Invest. Dermatol. 118:338-343(2002)
Cited for: VARIANTS HHD CYS-309; PRO-341; ARG-411; VAL-580; TYR-742 AND ARG-789;
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.