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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60826: Variant p.Tyr557Cys

Coiled-coil domain-containing protein 22
Gene: CCDC22
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Variant information Variant position: help 557 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 Tyrosine (Y) to Cysteine (C) at position 557 (Y557C, p.Tyr557Cys). 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 In RTSC2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 557 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 627 The length of the canonical sequence.
Location on the sequence: help AVTDELVFKDAKKDDAVRKA Y KYLAALHENCSQLIQTIEDT 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                         AVTDELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDT

Mouse                         AVTDELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDT

Rat                           AVTDELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDT

Bovine                        ---------DAKKDDAVRKAYKYLAALHENCSQLIQTIEDT

Xenopus laevis                VVTDELVFKDAKKDEPVRKAYKYLAALHENCSQLIQTIEDT

Xenopus tropicalis            VVTDELVFKDAKKDEPVRKAYKYLAALHENCSQLIQTIEDT

Zebrafish                     AVTDELVFKDAKKDESVRKSYKYLAALHENCTQLIQTIEDT

Drosophila                    NYTDDLLFQSAKHDLHAKRAYKLLAQLHANCNELVECVSLT

Slime mold                    ELVKDLLYNDAKKDQTAKQAIKSFAIIDDKFQKLFKTIDET
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 – 627 Coiled-coil domain-containing protein 22



Literature citations
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M.; Krawitz P.; Hecht J.; Hupalowska A.; Miaczynska M.; Marschner K.; Schlack C.; Emmerich D.; Kobus K.; Kornak U.; Robinson P.N.; Plecko B.; Grangl G.; Uhrig S.; Mundlos S.; Horn D.;
Eur. J. Hum. Genet. 23:633-638(2015)
Cited for: INVOLVEMENT IN RTSC2; VARIANT RTSC2 CYS-557;
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.