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UniProtKB/Swiss-Prot Q8IY92: Variant p.Ala505Thr

Structure-specific endonuclease subunit SLX4
Gene: SLX4
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Variant information Variant position: help 505
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 505 (A505T, p.Ala505Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 505
Protein sequence length: help 1834
Location on the sequence: help DRVALLLSEEVELSSTPPLP A SRILKEGWERAGQCPPPPER
Residue conservation: help 
Human                         DRVALLLSEEVELSSTPPLPASRILKEGWERAGQCPPPPER

Mouse                         DRVAQLLSEEAELSCTPPLLASKISKEELEPAGWRARLPEG

Drosophila                    DLESYYVTDLFEVSRTP---AHHLLKN-WAAIQGRDFSPE-

Baker's yeast                 KNITDFNINNYERSRTA-----SLLKQ--------------

Fission yeast                 KSLEKLGNKSIEANRSP------LIKELCESAN--------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1834 Structure-specific endonuclease subunit SLX4
Region 1 – 669 Interaction with SLX4IP, ERCC4/XPF and MSH2



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.