Variant position: 1694 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1834 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 SITPPSRSPTKEAPPGLNDD AQIPASQESVATSVDGSDSSL
Mouse --------PTGE-PSHPDGD AQLPASQESMATSVDGSDNSF
Drosophila --------PHSQVAKSTSKT LKAIGTKKDLTFNDATGEELL
Baker's yeast -------------------- -QILSTANPDNKGEHGGVANF
Fission yeast -------------------- -QVVKQAKDNS----------
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 – 1834 Structure-specific endonuclease subunit SLX4
684 – 1834 Interaction with PLK1 and TERF2-TERF2IP
1632 – 1834 Interaction with SLX1
Analysis of the novel Fanconi anemia gene SLX4/FANCP in familial breast cancer cases.
Bakker J.L.; van Mil S.E.; Crossan G.; Sabbaghian N.; De Leeneer K.; Poppe B.; Adank M.; Gille H.; Verheul H.; Meijers-Heijboer H.; de Winter J.P.; Claes K.; Tischkowitz M.; Waisfisz Q.;
Hum. Mutat. 34:70-73(2013)
Cited for: VARIANTS PHE-38; TRP-141; ALA-197; CYS-204; GLN-237; ARG-284; THR-378; THR-385; VAL-386; VAL-424; LYS-457; GLU-458; THR-505; ASN-506; MET-568; PRO-579; SER-671; LYS-787; VAL-870; GLY-894; LEU-929; GLN-942; MET-952; LEU-975; LYS-1007; TRP-1060; LEU-1122; TYR-1123; VAL-1221; PHE-1271; VAL-1286; GLY-1287; GLY-1342; PHE-1421; SER-1476; TRP-1550; VAL-1694; CYS-1814 AND SER-1834; CHARACTERIZATION OF VARIANTS THR-378; LYS-787; TRP-1550 AND CYS-1814; NO ASSOCIATION WITH BREAST CANCER;
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.