Variant position: 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 339 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 VDGAAMFAADPKKPIGGNII AHASTTRLYLRKGRGETRICK
Mouse VDGAAMFAADPKKPIGGNII AHASTTRLYLRKGRGETRICK
Bovine VDGAAMFAADPKKPIGGNII AHASTTRLYLRKGRGETRICK
Rabbit VDGAAMFAADPKKPIGGNII AHASTTRLYLRKGRGETRICK
Chicken VDGAAMFAADPKKPIGGNII AHASTTRLYLRKGRGETRICK
Drosophila LDGAPGMF-DAKKPIGGHIM AHSSTTRLYLRKGKGETRICK
Baker's yeast VDGGMAFNPDPKKPIGGNIM AHSSTTRLGFKKGKGCQRLCK
Fission yeast VDG-ISFNPDPKKPIGGNIL AHSSTTRLSLRKGRGEQRICK
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
2 – 339 DNA repair protein RAD51 homolog 1
309 – 309 Phosphothreonine; by CHEK1
285 – 339 Missing. In isoform 3.
309 – 309 T -> A. Confers hypersensitivity to hydroxyurea.
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Ameziane N.; May P.; Haitjema A.; van de Vrugt H.J.; van Rossum-Fikkert S.E.; Ristic D.; Williams G.J.; Balk J.; Rockx D.; Li H.; Rooimans M.A.; Oostra A.B.; Velleuer E.; Dietrich R.; Bleijerveld O.B.; Maarten Altelaar A.F.; Meijers-Heijboer H.; Joenje H.; Glusman G.; Roach J.; Hood L.; Galas D.; Wyman C.; Balling R.; den Dunnen J.; de Winter J.P.; Kanaar R.; Gelinas R.; Dorsman J.C.;
Nat. Commun. 6:8829-8829(2015)
Cited for: INVOLVEMENT IN FANCR; VARIANT FANCR THR-293; CHARACTERIZATION OF VARIANT FANCR THR-293; FUNCTION; SUBCELLULAR LOCATION;
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.