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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13938: Variant p.Arg180Gln

Calcyphosin
Gene: CAPS
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Variant information Variant position: help 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Arginine (R) to Glutamine (Q) at position 180 (R180Q, p.Arg180Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 Found in a consanguineous family with intellectual disability; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 275 The length of the canonical sequence.
Location on the sequence: help SGTLDLEEFLRALRPPMSQA R EAVIAAAFAKLDRSGDGVVT 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                         SGTLDLEEFLRALRPPMSQAREAVIAAAFAKLDRSGDGVVT

                              SGTLDLEEFLRALRPPMSQAREAVIAAAFAKLDRSGDGVVT

Bovine                        SGTLDLEEFLRALRPPMSQAREAVVTAAFAKLDRSGDGVVT

Rabbit                        SGTLDLEEFLRALRPPMSQAREAVIAAAFAKLDRSGDGVVT

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 – 275 Calcyphosin
Domain 179 – 214 EF-hand 3
Binding site 160 – 160
Binding site 162 – 162
Binding site 167 – 167
Binding site 192 – 192
Binding site 194 – 194
Binding site 196 – 196
Helix 178 – 191



Literature citations
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R.; Vasli N.; Mikhailov A.; Rafiq M.A.; Mittal K.; Windpassinger C.; Sheikh T.I.; Noor A.; Mahmood H.; Downey S.; Johnson M.; Vleuten K.; Bell L.; Ilyas M.; Khan F.S.; Khan V.; Moradi M.; Ayaz M.; Naeem F.; Heidari A.; Ahmed I.; Ghadami S.; Agha Z.; Zeinali S.; Qamar R.; Mozhdehipanah H.; John P.; Mir A.; Ansar M.; French L.; Ayub M.; Vincent J.B.;
Mol. Psychiatry 23:973-984(2018)
Cited for: VARIANT GLN-180;
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.