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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04626: Variant p.Pro1170Ala

Receptor tyrosine-protein kinase erbB-2
Gene: ERBB2
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Variant information Variant position: help 1170
Type of variant: help LB/B
Residue change: help From Proline (P) to Alanine (A) at position 1170 (P1170A, p.Pro1170Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1
Polymorphism: help There are four alleles due to the variations in positions 654 and 655. Allele B1 (Ile-654/Ile-655) has a frequency of 0.782; allele B2 (Ile-654/Val-655) has a frequency of 0.206; allele B3 (Val-654/Val-655) has a frequency of 0.012.
Other resources: help


Sequence information Variant position: help 1170
Protein sequence length: help 1255
Location on the sequence: help PSPREGPLPAARPAGATLER P KTLSPGKNGVVKDVFAFGGA
Residue conservation: help 
Human                         PSPREGPLPAARPAGATLERPKTLSP-----GKNGVVKDVFAFGGA

                              PLALEGPLPPSRPAGATLERPKTLSPKTLSPGKNGVVKDVF

Mouse                         PLTPEGPPPPIRPAGATLERPKTLSP-----GKNGVVKDVF

Rat                           PLTPEGPLPPVRPAGATLERPKTLSP-----GKNGVVKDVF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 1255 Receptor tyrosine-protein kinase erbB-2
Topological domain 676 – 1255 Cytoplasmic
Region 1035 – 1179 Disordered
Modified residue 1151 – 1151 Phosphoserine
Modified residue 1166 – 1166 Phosphothreonine
Alternative sequence 884 – 1255 Missing. In isoform 6.



Literature citations
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene.
Coussens L.; Yang-Feng T.L.; Liao Y.C.; Chen E.; Gray A.; McGrath J.; Seeburg P.H.; Libermann T.A.; Schlessinger J.; Francke U.; Levinson A.; Ullrich A.;
Science 230:1132-1139(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT ALA-1170; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CYS-452; VAL-655 AND ALA-1170; Molecular cloning and sequencing of an intron of Her-2/neu (ERBB2) gene.
Sarkar F.H.; Ball D.E.; Li Y.W.; Crissman J.D.;
DNA Cell Biol. 12:611-615(1993)
Cited for: NUCLEOTIDE SEQUENCE OF 1081-1245; VARIANT ALA-1170; 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] VAL-654; VAL-655; SER-768; ALA-1170 AND ASP-1216; VARIANT GASC SER-776; VARIANT OC SER-857;
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.