Variant position: 150 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 RTGKTQICHTLAVTCQLPID RGGGEGKAMYIDTEGTFRPER
Mouse RTGKTQICHTLAVTCQLPID RGGGEGKAMYIDTEGTFRPER
Bovine RTGKTQICHTLAVTCQLPID RGGGEGKAMYIDTEGTFRPER
Rabbit RTGKTQICHTLAVTCQLPID RGGGEGKAMYIDTEGTFRPER
Chicken RTGKTQLCHTLAVTCQLPID RGGGEGKAMYIDTEGTFRPER
Drosophila RCGKTQLCHTLAVTCQLPIS QKGGEGKCMYIDTENTFRPER
Baker's yeast RTGKSQLCHTLAVTCQIPLD IGGGEGKCLYIDTEGTFRPVR
Fission yeast RTGKSQICHTLAVTCQLPID MGGGEGKCLYIDTEGTFRPVR
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
77 – 173 Missing. In isoform 2.
148 – 150
Identification of Rad51 alteration in patients with bilateral breast cancer.
Kato M.; Yano K.; Matsuo F.; Saito H.; Katagiri T.; Kurumizaka H.; Yoshimoto M.; Kasumi F.; Akiyama F.; Sakamoto G.; Nagawa H.; Nakamura Y.; Miki Y.;
J. Hum. Genet. 45:133-137(2000)
Cited for: VARIANT BC GLN-150;
Tumor-associated mutations in a conserved structural motif alter physical and biochemical properties of human RAD51 recombinase.
Chen J.; Morrical M.D.; Donigan K.A.; Weidhaas J.B.; Sweasy J.B.; Averill A.M.; Tomczak J.A.; Morrical S.W.;
Nucleic Acids Res. 43:1098-1111(2015)
Cited for: CHARACTERIZATION OF VARIANT BC GLN-150;
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.