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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96MF2: Variant p.Trp284Ser

SH3 and cysteine-rich domain-containing protein 3
Gene: STAC3
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Variant information Variant position: help 284 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 Tryptophan (W) to Serine (S) at position 284 (W284S, p.Trp284Ser). 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 (W) to small size and polar (S) 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 CMYO13; loss of interaction with CACNA1S. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 364 The length of the canonical sequence.
Location on the sequence: help DDLDFPPGEKITVIDDSNEE W WRGKIGEKVGFFPPNFIIRV 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                         DDLDFPPGEKITVIDDSNEEWWRGKIGEKVGFFPPNFIIRV

Mouse                         DDLDFPPGEKITVIDDSNEEWWRGKIGEKVGFFPPNFIIRV

Xenopus tropicalis            DDLDFQAGERITVIDDSNEEWWRGKVGEKAGYFPANFIIRV

Zebrafish                     DDLDFHPGDRITVLDDSNEEWWRGKIGEKTGYLPMTYIIRV
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 – 364 SH3 and cysteine-rich domain-containing protein 3
Domain 247 – 306 SH3 1



Literature citations
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
Horstick E.J.; Linsley J.W.; Dowling J.J.; Hauser M.A.; McDonald K.K.; Ashley-Koch A.; Saint-Amant L.; Satish A.; Cui W.W.; Zhou W.; Sprague S.M.; Stamm D.S.; Powell C.M.; Speer M.C.; Franzini-Armstrong C.; Hirata H.; Kuwada J.Y.;
Nat. Commun. 4:1952-1952(2013)
Cited for: FUNCTION; VARIANT CMYO13 SER-284; INVOLVEMENT IN CMYO13; Structural insights into binding of STAC proteins to voltage-gated calcium channels.
Wong King Yuen S.M.; Campiglio M.; Tung C.C.; Flucher B.E.; Van Petegem F.;
Proc. Natl. Acad. Sci. U.S.A. 114:E9520-E9528(2017)
Cited for: X-RAY CRYSTALLOGRAPHY (1.30 ANGSTROMS) OF 309-364; FUNCTION; INTERACTION WITH CACNA1S; CHARACTERIZATION OF VARIANT CMYO13 SER-284; Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A.; Webb B.D.; Robbins S.M.; Speck-Martins C.E.; FitzPatrick D.; Fleming L.; Redett R.; Dufke A.; Houge G.; van Harssel J.J.T.; Verloes A.; Robles A.; Manoli I.; Engle E.C.; Jabs E.W.; Valle D.; Carey J.; Hoover-Fong J.E.; Sobreira N.L.M.;
Am. J. Med. Genet. A 173:2763-2771(2017)
Cited for: VARIANT CMYO13 SER-284; INVOLVEMENT IN CMYO13;
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.