UniProtKB/SwissProt variant VAR

Codanin-1
Gene: CDAN1
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Variant information Variant position:

1042
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 1042 (R1042W, p.Arg1042Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In CDAN1A; partially disrupts ASF1 binding.
Other resources:

Variant rs80338697 [ dbSNP | Ensembl ]

Sequence information Variant position:

1042
Protein sequence length:

1227
Location on the sequence:

PLPSHLISEIKDVLSLAVGP R DPDEGVSPEHLEQLLGQLGQ
Residue conservation:

Human                         PLPSHLISEIK-------DVLSLAVGPRDPDEGVSPEHLEQLLGQLGQ

Mouse                         PLPSHLISEIKFHHCSLQDVLSLAAGPRDPEEGVSPEHLEQ

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 1227	Codanin-1

Literature citations
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;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWY9: Variant p.Arg1042Trp