UniProtKB/Swiss-Prot Q96RL1 : Variant p.Cys511Arg
BRCA1-A complex subunit RAP80
Gene: UIMC1
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Variant information
Variant position:
511
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LB/B
The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change:
From Cysteine (C) to Arginine (R) at position 511 (C511R, p.Cys511Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:
Change from medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution). More information can be found on the following page
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
511
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
719
The length of the canonical sequence.
Location on the sequence:
EVAISTFSSSNQVSCPLCDQ
C FPPTKIERHAMYCNGLMEED
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 EVAISTFSSSNQVSCPLCDQC FPPTKIERHAMYCNGLMEED
Mouse ENPPPAVSSSTRVSCPLCNQD FPPTKIEQHAMYCNGLMEQE
Rat DSRPPAVSASARVSCPLCNQD FPPTKIEQHAMYCTGLMEPE
Pig EIHTSTFSSSTQVSCPLCDQG FPPTKIERHAMYCNGLMGGD
Xenopus tropicalis SQRQSGSTVHYYWGVPFCPKG EDP-NLYTQVILCQ-LEVYE
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
Chain
1 – 719
BRCA1-A complex subunit RAP80
Zinc finger
502 – 529
UBZ4-type
Region
505 – 582
Zinc-finger-like region
Binding site
505 – 505
Binding site
508 – 508
Binding site
520 – 520
Binding site
524 – 524
Alternative sequence
153 – 719
Missing. In isoform 5.
Mutagenesis
508 – 508
C -> A. Abolishes interaction with histone monoubiquitinated H2B without affecting the interaction with H2A.
Literature citations
Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.
Novak D.J.; Sabbaghian N.; Maillet P.; Chappuis P.O.; Foulkes W.D.; Tischkowitz M.;
Breast Cancer Res. Treat. 117:453-459(2009)
Cited for: VARIANTS TRP-15; THR-353; LEU-435 AND ARG-511;
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.