Variant position: 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 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 HIEKDMKHQS----FYIETKLDGE RMQMH--KDGDVYKYFSRNGYNY
Mouse RVEKDMKQQS----FYIETKLDGE RMQMH--KDGALYRYFS
Chicken QIEKQMNNQV----FYIETKLDGE RMQMH--KDGDVYKYFS
Slime mold NLSMILNSAISATQFVVEKKFDGE RIQIH--KDGEQVKYFS
Baker's yeast KICRTLHDD-----FLVEEKMDGE RIQVHYMNYGESIKFFS
Fission yeast QTLEAMGNKP----FWIEEKLDGE RIQLH--MSSGKFQFYS
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.
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.
Riballo E.; Critchlow S.E.; Teo S.-H.; Doherty A.J.; Priestley A.; Broughton B.C.; Kysela B.; Beamish H.; Plowman N.; Arlett C.F.; Lehmann A.R.; Jackson S.P.; Jeggo P.A.;
Curr. Biol. 9:699-702(1999)
Cited for: VARIANT LEUKEMIA HIS-278;
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.
Riballo E.; Doherty A.J.; Dai Y.; Stiff T.; Oettinger M.A.; Jeggo P.A.; Kysela B.;
J. Biol. Chem. 276:31124-31132(2001)
Cited for: CHARACTERIZATION OF VARIANT HIS-278;
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
O'Driscoll M.; Cerosaletti K.M.; Girard P.-M.; Dai Y.; Stumm M.; Kysela B.; Hirsch B.; Gennery A.; Palmer S.E.; Seidel J.; Gatti R.A.; Varon R.; Oettinger M.A.; Neitzel H.; Jeggo P.A.; Concannon P.;
Mol. Cell 8:1175-1185(2001)
Cited for: VARIANTS LIG4S HIS-278 AND GLU-469;
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.