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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6DN12: Variant p.Tyr235Cys

Multiple C2 and transmembrane domain-containing protein 2
Gene: MCTP2
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Variant information Variant position: help 235 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 Tyrosine (Y) to Cysteine (C) at position 235 (Y235C, p.Tyr235Cys). 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 aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 patient with left-sided obstructive cardiac lesions; uncertain significance; alters Ca(2+)-binding affinity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 878 The length of the canonical sequence.
Location on the sequence: help SDPYVKFKLNGKTLYKSKVI Y KNLNPVWDEIVVLPIQSLDQ 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                         SDPYVKFKLNGKTLYKSKVIYKNLNPVWDEIVVLPIQSLDQ

Mouse                         SDPYVKFKLNGKTLYKSKVIYKNLNPIWDEIVVLPIQSLDQ

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 – 878 Multiple C2 and transmembrane domain-containing protein 2
Domain 177 – 292 C2 1
Binding site 216 – 216
Alternative sequence 1 – 412 Missing. In isoform 3 and isoform 4.
Alternative sequence 200 – 878 Missing. In isoform 5.



Literature citations
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani S.R.; Ware S.M.; Wang X.; Zapata G.; Tian Q.; Franco L.M.; Jiang Z.; Bucasas K.; Scott D.A.; Campeau P.M.; Hanchard N.; Umana L.; Cast A.; Patel A.; Cheung S.W.; McBride K.L.; Bray M.; Craig Chinault A.; Boggs B.A.; Huang M.; Baker M.R.; Hamilton S.; Towbin J.; Jefferies J.L.; Fernbach S.D.; Potocki L.; Belmont J.W.;
Hum. Mol. Genet. 22:4339-4348(2013)
Cited for: POTENTIAL INVOLVEMENT IN CONGENITAL LEFT HEART OBSTRUCTIVE DEFECTS; VARIANTS HIS-46; HIS-47; THR-60; ASP-203; CYS-235; ILE-475 AND VAL-695; CHARACTERIZATION OF VARIANTS ASP-203 AND CYS-235; FUNCTION;
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.