Variant position: 2626 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3418 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 DTPGVDPKLISRIWVYNHYR WIIWKLAAMECAFPKEFANRC
Mouse DTPGVDPKLISSIWVANHYR WIVWKLAAMEFAFPKEFANRC
Rat DTPGVDPKLISSVWVSNHYR WIVWKLAAMEFAFPKEFANRC
Cat DTPGVDPNLISRIWVYNHYR WIIWKLAAMEFAFPKEFANRC
Drosophila SQP----------------- ---------------------
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 – 3418 Breast cancer type 2 susceptibility protein
2481 – 2832 Interaction with SEM1
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton D.F.; Deffenbaugh A.M.; Pruss D.; Frye C.; Wenstrup R.J.; Allen-Brady K.; Tavtigian S.V.; Monteiro A.N.A.; Iversen E.S.; Couch F.J.; Goldgar D.E.;
Am. J. Hum. Genet. 81:873-883(2007)
Cited for: VARIANTS HIS-2336; CYS-2502; CYS-2626; PHE-2627; PRO-2653; LYS-2659; VAL-2663; ARG-2722; GLY-2723; ASP-2748 AND GLU-3095;
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
Alter B.P.; Rosenberg P.S.; Brody L.C.;
J. Med. Genet. 44:1-9(2007)
Cited for: VARIANTS FANCD1 HIS-2336 AND CYS-2626;
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Biswas K.; Das R.; Alter B.P.; Kuznetsov S.G.; Stauffer S.; North S.L.; Burkett S.; Brody L.C.; Meyer S.; Byrd R.A.; Sharan S.K.;
Cited for: CHARACTERIZATION OF VARIANTS FANCD1 HIS-2336; PRO-2510 AND CYS-2626; CHARACTERIZATION OF VARIANTS THR-2490 AND ASN-2729; FUNCTION; INTERACTION WITH SEM1;
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L.; Pankratz V.S.; Singh N.; Thompson J.; Erding C.A.; Engel C.; Schmutzler R.; Domchek S.; Nathanson K.; Radice P.; Singer C.; Tonin P.N.; Lindor N.M.; Goldgar D.E.; Couch F.J.;
Cancer Res. 73:265-275(2013)
Cited for: CHARACTERIZATION OF VARIANTS BC PHE-2627; PRO-2653; ARG-2722; GLY-2723; HIS-2723; ASN-2729; HIS-2787; PRO-2792; ARG-2793; ALA-2856; THR-2951; ILE-3013; TRP-3052; GLU-3076; GLU-3095; HIS-3098 AND ILE-3124; CHARACTERIZATION OF VARIANTS ARG-2440; VAL-2466; CYS-2842 AND SER-3063; CHARACTERIZATION OF VARIANT FANCD1 PRO-2510 AND CYS-2626;
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.