Variant position: 935 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 KYSTSPYLLEAASHLSPENF VEDEAKICVQELQCPKIITKN
Mouse EDSTFTSVSESS-HQSPENS TE-EAEVCVQELQCPQVATKS
Chicken KEPSSASQQEATIHLSPDVP VKSEEQSFVPETHLTTTINSI
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
888 – 1063 Interaction with BRCA1
927 – 927 Phosphoserine
930 – 930 Phosphoserine
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;
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.