Variant position: 714 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1227 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 PWLVEFLSFADHVVPLLEYY RDIFTLLLRLHRSLVLSQESE
Mouse PWLVEFLSFADHIVPLLDYY RSVFTLLLRLHRSLVLSKENE
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
2 – 1227 Codanin-1
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O.; Avidan N.; Delaunay J.; Krasnov T.; Shalmon L.; Shalev H.; Eidelitz-Markus T.; Kapelushnik J.; Cattan D.; Pariente A.; Tulliez M.; Cretien A.; Schischmanoff P.-O.; Iolascon A.; Fibach E.; Koren A.; Roessler J.; Le Merrer M.; Yaniv I.; Zaizov R.; Ben-Asher E.; Olender T.; Lancet D.; Beckmann J.S.; Tamary H.;
Am. J. Hum. Genet. 71:1467-1474(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); TISSUE SPECIFICITY; VARIANTS CDAN1A SER-599; LEU-672; LYS-698; TRP-714; ILE-868; MET-869; TRP-1042; VAL-1043 AND LEU-1130;
Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.
Ask K.; Jasencakova Z.; Menard P.; Feng Y.; Almouzni G.; Groth A.;
EMBO J. 31:2013-2023(2012)
Cited for: SUBCELLULAR LOCATION; FUNCTION; INTERACTION WITH ASF1A AND ASF1B; IDENTIFICATION IN A COMPLEX WITH ASF1A; ASF1B; IPO4; HISTONES H3.2 AND H4; CHARACTERIZATION OF VARIANTS TRP-714 AND TRP-1042; IDENTIFICATION BY MASS SPECTROMETRY;
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.