Variant position: 349 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1249 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 QGMCKAWDIEELVSLGKKLK ACPYYTARELIQDADIIFCPY
Mouse QGMSRAWDIEELVSLGRKLK ACPYYTARELIEDADIVFCPY
Chicken HNTYQAWDIEDLVSLGKKLR ACPYFAARELMVGADIVFCPY
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 – 1249 Fanconi anemia group J protein
11 – 442 Helicase ATP-binding
350 – 350 Iron-sulfur (4Fe-4S)
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O.; Attwooll C.; Henry R.T.; Milton K.L.; Neveling K.; Rio P.; Batish S.D.; Kalb R.; Velleuer E.; Barral S.; Ott J.; Petrini J.; Schindler D.; Hanenberg H.; Auerbach A.D.;
Nat. Genet. 37:931-933(2005)
Cited for: VARIANT FANCJ PRO-349;
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.
Wu Y.; Sommers J.A.; Suhasini A.N.; Leonard T.; Deakyne J.S.; Mazin A.V.; Shin-Ya K.; Kitao H.; Brosh R.M. Jr.;
Cited for: VARIANT FANCJ PRO-349; COFACTOR; CHARACTERIZATION OF VARIANT FANCJ PRO-349;
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