Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P84074: Variant p.Thr71Asn

Neuron-specific calcium-binding protein hippocalcin
Gene: HPCA
Feedback?
Variant information Variant position: help 71 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 Threonine (T) to Asparagine (N) at position 71 (T71N, p.Thr71Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 DYT2; no effect on protein localization; no effect on protein abundance; no effect on protein stability; no effect on protein 3D structure; decreased oligomerization; changed calcium-binding; effect on cooperativity for calcium-binding; no effect on affinity for calcium; no effect on interaction with voltage-dependent calcium channels. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 193 The length of the canonical sequence.
Location on the sequence: help IYANFFPYGDASKFAEHVFR T FDTNSDGTIDFREFIIALSV 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                         IYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSV

Mouse                         IYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSV

Rat                           IYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSV

Pig                           IYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSV

Bovine                        IYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSV
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 2 – 193 Neuron-specific calcium-binding protein hippocalcin
Domain 60 – 95 EF-hand 2
Binding site 73 – 73
Binding site 75 – 75
Binding site 77 – 77
Binding site 79 – 79
Binding site 84 – 84
Helix 58 – 72



Literature citations
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.
Helassa N.; Antonyuk S.V.; Lian L.Y.; Haynes L.P.; Burgoyne R.D.;
Hum. Mol. Genet. 26:2426-2435(2017)
Cited for: X-RAY CRYSTALLOGRAPHY (2.42 ANGSTROMS) OF WILD-TYPE AND VARIANTS DYT2 ASN-71 AND THR-190 IN COMPLEX WITH CALCIUM; FUNCTION; SUBUNIT; INTERACTION WITH CACNA1A AND CACNA1B; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS DYT2 ASN-71 AND THR-190; DOMAIN; Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G.; Angelova P.R.; Bartolome-Robledo F.; Ryten M.; Trabzuni D.; Stamelou M.; Abramov A.Y.; Bhatia K.P.; Wood N.W.;
Am. J. Hum. Genet. 96:657-665(2015)
Cited for: INVOLVEMENT IN DYT2; VARIANTS DYT2 ASN-71; LYS-75 AND THR-190;
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.