Variant position: 699 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 838 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 LGINLTAADTVIIYDSDWNP QSDLQAQDRCHRIGQTKPVVV
Mouse LGINLTAADTVIIYDSDWNP QSDLQAQDRCHRIGQTKPVVV
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 – 838 Lymphoid-specific helicase
603 – 767 Helicase C-terminal
130 – 838 Missing. In isoform 9.
316 – 838 Missing. In isoform 8.
346 – 838 Missing. In isoform 7.
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen P.E.; Ito Y.; Grillo G.; Wang J.; Velasco G.; Nitta H.; Unoki M.; Yoshihara M.; Suyama M.; Sun Y.; Lemmers R.J.; de Greef J.C.; Gennery A.; Picco P.; Kloeckener-Gruissem B.; Guengoer T.; Reisli I.; Picard C.; Kebaili K.; Roquelaure B.; Iwai T.; Kondo I.; Kubota T.; van Ostaijen-Ten Dam M.M.; van Tol M.J.; Weemaes C.; Francastel C.; van der Maarel S.M.; Sasaki H.;
Nat. Commun. 6:7870-7870(2015)
Cited for: INVOLVEMENT IN ICF4; VARIANTS ICF4 ARG-699 AND LEU-801 DEL;
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