Variant position: 1114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1620 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LGQVLVRPFVEVSFQRTVCH TTTAEGPNPSWNEELELPFRA
Mouse LGQVLVRPFVEVSFQRTICH TTTAEGPNPSWNEELELPFRA
Drosophila LMYSNVRPFVTLSYGQRLCR SRTAEGSNPTWNEQLQLQIQS
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 1620 Coiled-coil and C2 domain-containing protein 2A
1062 – 1174 C2
112 – 1620 Missing. In isoform 4.
123 – 1620 Missing. In isoform 3.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S.; Thomas S.; Szenker E.; Audollent S.; Elkhartoufi N.; Babarit C.; Romano S.; Salomon R.; Amiel J.; Esculpavit C.; Gonzales M.; Escudier E.; Leheup B.; Loget P.; Odent S.; Roume J.; Gerard M.; Delezoide A.-L.; Khung S.; Patrier S.; Cordier M.-P.; Bouvier R.; Martinovic J.; Gubler M.-C.; Boddaert N.; Munnich A.; Encha-Razavi F.; Valente E.M.; Saad A.; Saunier S.; Vekemans M.; Attie-Bitach T.;
Hum. Mutat. 30:1574-1582(2009)
Cited for: DEVELOPMENTAL STAGE; VARIANTS JBTS9 SER-721; MET-1114 AND VAL-1556; VARIANT GLU-800;
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J.; Salonen R.; Kohlschmidt N.; Peltonen L.; Kestilae M.;
Hum. Mutat. 30:E813-E830(2009)
Cited for: VARIANT MKS6 MET-1114;
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