Sequence information
Variant position: 694 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1226 The length of the canonical sequence.
Location on the sequence:
KIAQDIERLIHQSDIIDRVV
Y DLDNPNYTIPEEGDILKFNS
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 KIAQDIERLIHQSDIIDRVVY DLDN------PNYTIP--------EEGDILKFNS
Mouse KIAQDIERLIHQNDIIDRVVY DLDN------PTYTTP----
Chicken KISQDIERLIHQNDIIDRVVY DLDN------SICSAP----
Xenopus laevis KIFQDIERMIHPNDIIDRVIY DLDN------PSCSAH----
Xenopus tropicalis KIFQDIERMIHPNDIIDRVVY DLDN------SSCSAQ----
Zebrafish KIFQDIERLIHSSDILDKVVY DLDN------QSSPLT----
Caenorhabditis elegans -IIEELDKP-ERSATSNQVIY DLDTAAFDGLPSPELPFVTG
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
Chain
1 – 1226
Cytosolic carboxypeptidase 1
Literature citations
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V.; Magiera M.M.; Klein D.; Zaki M.; Schoch K.; Rudnik-Schoeneborn S.; Norman A.; Lopes Abath Neto O.; Dusl M.; Yuan X.; Bartesaghi L.; De Marco P.; Alfares A.A.; Marom R.; Arold S.T.; Guzman-Vega F.J.; Pena L.D.; Smith E.C.; Steinlin M.; Babiker M.O.; Mohassel P.; Foley A.R.; Donkervoort S.; Kaur R.; Ghosh P.S.; Stanley V.; Musaev D.; Nava C.; Mignot C.; Keren B.; Scala M.; Tassano E.; Picco P.; Doneda P.; Fiorillo C.; Issa M.Y.; Alassiri A.; Alahmad A.; Gerard A.; Liu P.; Yang Y.; Ertl-Wagner B.; Kranz P.G.; Wentzensen I.M.; Stucka R.; Stong N.; Allen A.S.; Goldstein D.B.; Schoser B.; Roesler K.M.; Alfadhel M.; Capra V.; Chrast R.; Strom T.M.; Kamsteeg E.J.; Boennemann C.G.; Gleeson J.G.; Martini R.; Janke C.; Senderek J.;
EMBO J. 37:0-0(2018)
Cited for: VARIANTS CONDCA 330-ARG--PRO-1226 DEL; ASP-694; 788-GLN--PRO-1226 DEL; CYS-799; MET-851; 856-GLN--PRO-1226 DEL; CYS-910; TRP-918 AND LEU-990; CHARACTERIZATION OF VARIANTS CONDCA ASP-694; MET-851; 856-GLN--PRO-1226 DEL; TRP-918 AND LEU-990; INVOLVEMENT IN CONDCA; 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.