UniProtKB/Swiss-Prot P11274: Variant p.Asn796Ser

Breakpoint cluster region protein
Gene: BCR
Chromosomal location: 22q11.23
Variant information

Variant position:  796
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Asparagine (N) to Serine (S) at position 796 (N796S, p.Asn796Ser).
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 (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  796
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1271
The length of the canonical sequence.

Location on the sequence:   IPLVPDEELDALKIKISQIK  N DIQREKRANKGSKATERLKK
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                         IPLVPDEELDALKIKISQIKNDIQREKRANKGSKATERLKK

Mouse                         IPLVPDEELDALKIKISQIKSDIQREKRANKGSKVMERLRK

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.

TypePositionsDescription
Chain 1 – 1271 Breakpoint cluster region protein
Domain 708 – 866 PH


Literature citations

bcr genes and transcripts.
Lifshitz B.; Fainstein E.; Marcelle C.; Shtivelman E.; Amson R.; Gale R.P.; Canaani E.;
Oncogene 2:113-117(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT SER-796;

Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method.
Nakajima D.; Saito K.; Yamakawa H.; Kikuno R.F.; Nakayama M.; Ohara R.; Okazaki N.; Koga H.; Nagase T.; Ohara O.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT SER-796;

cDNA sequence for human bcr, the gene that translocates to the abl oncogene in chronic myeloid leukaemia.
Hariharan I.K.; Adams J.M.;
EMBO J. 6:115-119(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-872; VARIANT SER-796;

Chronic myeloid leukemia may be associated with several bcr-abl transcripts including the acute lymphoid leukemia-type 7 kb transcript.
Selleri L.; von Lindern M.; Hermans A.; Meijer D.; Torelli G.; Grosveld G.;
Blood 75:1146-1153(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 670-842; VARIANT SER-796;

Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-400; MET-413; GLU-752; SER-796; CYS-910; ILE-949; LYS-1037; MET-1091; ALA-1096; GLY-1104; ASN-1106; THR-1149; LYS-1161; GLU-1187; MET-1189; GLY-1204 AND ARG-1235;

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.