Variant position: 523 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1208 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 PTGAGKSLCYQLPALLYSRR SPCLTLVVSPLLSLMDDQVSG
Mouse PTGAGKSLCYQLPALLYAQR SPCLTLVVSPLLSLMDDQVSD
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 – 1208 ATP-dependent DNA helicase Q4
489 – 662 Helicase ATP-binding
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L.; Siitonen H.A.; Jalkh N.; Chouery E.; De Roy M.; Delague V.; Muenke M.; Jabs E.W.; Cai J.; Wang L.L.; Plon S.E.; Fourneau C.; Kestilae M.; Gillerot Y.; Megarbane A.; Verloes A.;
J. Med. Genet. 43:148-152(2006)
Cited for: VARIANT BGS TRP-1021; VARIANT THR-523;
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