Variant position: 195 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 CFGTEVHNLDAKVDSGKTVK LNSPLEK---INSFSPQKPPGHCS
Mouse CLEKDVHHVDARLASEKRVK PESPIGKSFSDRKDSFQNVDG
Chicken CFSKEVQLVDALEVYNQRKN GELIVHSEKSVKNTSPQTLFS
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
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
Rutter J.L.; Smith A.M.; Davila M.R.; Sigurdson A.J.; Giusti R.M.; Pineda M.A.; Doody M.M.; Tucker M.A.; Greene M.H.; Zhang J.; Struewing J.P.;
Hum. Mutat. 22:121-128(2003)
Cited for: VARIANTS CYS-173; ILE-193; PRO-195; TRP-419; VAL-531; LEU-540; TYR-832; PRO-919 AND GLY-935;
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