UniProtKB/Swiss-Prot P51587: Variant p.Leu1522Phe

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position:

1522 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 Leucine (L) to Phenylalanine (F) at position 1522 (L1522F, p.Leu1522Phe). 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 hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

In one patient with BC. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs397507729 [ dbSNP | Ensembl ]

Sequence information Variant position:

1522 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:

QLVTFQGQPERDEKIKEPTL L GFHTASGKKVKIAKESLDKV 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                         QLVTFQGQPERD-EKIKEPTLLGFHTASGKKVKIAKESLDKV

Mouse                         QLPA-QQHPEYEIESTKEPTLLSFHTASGKKVKIMQESLDK

Rat                           QLPALQQYPEYEIESIKEPTLLSFHTASGKKVKIMQESLDK

Cat                           KSLTLQQRPEYEIKKIKEPTILGFHTASGKRIEIAKESLDK

Drosophila                    -----------------------------------------

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 – 3418	Breast cancer type 2 susceptibility protein
Repeat	1517 – 1551	BRCA2 4
Region	1003 – 2082	Interaction with RAD51
Region	1338 – 1781	Interaction with POLH
Region	1410 – 1595	Required for stimulation of POLH DNA polymerization activity
Helix	1520 – 1522

Literature citations
Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.
Sakayori M.; Kawahara M.; Shiraishi K.; Nomizu T.; Shimada A.; Kudo T.; Abe R.; Ohuchi N.; Takenoshita S.; Kanamaru R.; Ishioka C.;
J. Hum. Genet. 48:130-137(2003)
Cited for: VARIANTS PRO-582; PHE-1522 AND VAL-2044;

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.