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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P2K1: Variant p.Glu1126Lys

Coiled-coil and C2 domain-containing protein 2A
Gene: CC2D2A
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Variant information Variant position: help 1126 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 Glutamate (E) to Lysine (K) at position 1126 (E1126K, p.Glu1126Lys). 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 medium size and acidic (E) to large size and basic (K) 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 In JBTS9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1620 The length of the canonical sequence.
Location on the sequence: help SFQRTVCHTTTAEGPNPSWN E ELELPFRAPNGDYSTASLQS 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                         SFQRTVCHTTTAEGPNPSWNEELELPFRAPNGDYSTASLQS

Mouse                         SFQRTICHTTTAEGPNPSWNEELELPFRAPNGDYSTASLQS

Drosophila                    SYGQRLCRSRTAEGSNPTWNEQLQLQIQSQFGD--------
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 – 1620 Coiled-coil and C2 domain-containing protein 2A
Domain 1025 – 1203 C2
Alternative sequence 112 – 1620 Missing. In isoform 4.
Alternative sequence 123 – 1620 Missing. In isoform 3.



Literature citations
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M.; Schwartzentruber J.; Hamdan F.F.; Ospina L.H.; Patry L.; Labuda D.; Massicotte C.; Dobrzeniecka S.; Capo-Chichi J.M.; Papillon-Cavanagh S.; Samuels M.E.; Boycott K.M.; Shevell M.I.; Laframboise R.; Desilets V.; Maranda B.; Rouleau G.A.; Majewski J.; Michaud J.L.;
Am. J. Hum. Genet. 90:693-700(2012)
Cited for: VARIANTS JBTS9 LYS-1126 AND VAL-1556; Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M.; Hamdan F.F.; Schwartzentruber J.A.; Patry L.; Ospina L.H.; Shevell M.I.; Desilets V.; Dobrzeniecka S.; Mathonnet G.; Lemyre E.; Massicotte C.; Labuda D.; Amrom D.; Andermann E.; Sebire G.; Maranda B.; Rouleau G.A.; Majewski J.; Michaud J.L.;
J. Med. Genet. 49:636-641(2012)
Cited for: VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568; Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M.; Hamdan F.F.; McKnight D.; Davis E.; Mandel H.; Schwartzentruber J.; Martin B.; Patry L.; Nassif C.; Dionne-Laporte A.; Ospina L.H.; Lemyre E.; Massicotte C.; Laframboise R.; Maranda B.; Labuda D.; Decarie J.C.; Rypens F.; Goldsher D.; Fallet-Bianco C.; Soucy J.F.; Laberge A.M.; Maftei C.; Boycott K.; Brais B.; Boucher R.M.; Rouleau G.A.; Katsanis N.; Majewski J.; Elpeleg O.; Kukolich M.K.; Shalev S.; Michaud J.L.;
Am. J. Hum. Genet. 97:744-753(2015)
Cited for: VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568;
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.