Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 566 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 QELETAF---LEHKEQFHYFILI NCGANVDLLDILQPDEDTI----------------FF
Mouse QELETAY---LEHKEQFSYFILI NCGANVDLLDILQPDEDS
Xenopus laevis QELETLF---LEHKEQFRYFVLI NCGANIDLLETLQPQEEA
Slime mold EDLENVNSTLLE-NEEIKSIIMI NCGGNIDITNVFTNLNDQ
Baker's yeast SELRRHYSQL---DDNINSLLLV GFGGVIDLEAFLEIDPQE
Fission yeast RDLEQANKTLLEQNEDIKFIILL NCGTMVDLNNYLVSMEDV
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 – 566 Cell division control protein 45 homolog
68 – 113 Missing. In isoform 2.
70 – 78
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis.
Fenwick A.L.; Kliszczak M.; Cooper F.; Murray J.; Sanchez-Pulido L.; Twigg S.R.; Goriely A.; McGowan S.J.; Miller K.A.; Taylor I.B.; Logan C.; Bozdogan S.; Danda S.; Dixon J.; Elsayed S.M.; Elsobky E.; Gardham A.; Hoffer M.J.; Koopmans M.; McDonald-McGinn D.M.; Santen G.W.; Savarirayan R.; de Silva D.; Vanakker O.; Wall S.A.; Wilson L.C.; Yuregir O.O.; Zackai E.H.; Ponting C.P.; Jackson A.P.; Wilkie A.O.; Niedzwiedz W.; Bicknell L.S.;
Am. J. Hum. Genet. 99:125-138(2016)
Cited for: INVOLVEMENT IN MGORS7; VARIANTS MGORS7 ARG-68; HIS-76; GLY-155; CYS-157; GLY-226; TYR-264; VAL-298; THR-321; 424-ARG--SER-566 DEL; LEU-463; LEU-496 AND TRP-554; CHARACTERIZATION OF VARIANTS MGORS7 ARG-68; HIS-76; CYS-157; GLY-226 AND VAL-298;
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.