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UniProtKB/Swiss-Prot Q8IY92: Variant p.Arg1550Trp

Structure-specific endonuclease subunit SLX4
Gene: SLX4
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Variant information Variant position: help 1550
Type of variant: help LB/B
Residue change: help From Arginine (R) to Tryptophan (W) at position 1550 (R1550W, p.Arg1550Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help Does not modify the functional properties of the protein.
Other resources: help


Sequence information Variant position: help 1550
Protein sequence length: help 1834
Location on the sequence: help MPSAGGAQKPEGLETPKGAN R KKNLPPKVPITPMPQYSIME
Residue conservation: help 
Human                         MPSAGGAQKPEGLETPKGANRKKNLPPKVPITPMPQYSIME

Mouse                         MLST-RTRKPDRPETPKGANQKKNLPPKVPITPMPRYSIME

Drosophila                    VYSV-----------------------RVCHTPKPDFATLP

Baker's yeast                 ---------------------------KFCEIMMSQ----S

Fission yeast                 -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1834 Structure-specific endonuclease subunit SLX4
Region 684 – 1834 Interaction with PLK1 and TERF2-TERF2IP
Region 1328 – 1648 Interaction with MUS81
Region 1516 – 1564 Disordered
Beta strand 1548 – 1550



Literature citations
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;
Disclaimer: 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.