Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Ala75Pro

Breast cancer type 2 susceptibility protein
Gene: BRCA2
Feedback?
Variant information Variant position: help 75
Type of variant: help LB/B
Residue change: help From Alanine (A) to Proline (P) at position 75 (A75P, p.Ala75Pro).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 75
Protein sequence length: help 3418
Location on the sequence: help NNYEPNLFKTPQRKPSYNQL A STPIIFKEQGLTLPLYQSPV
Residue conservation: help 
Human                         NNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLY-QSPV

Mouse                         HGYEPQLFKTPQRNPPYHQFASTPIMFKERSQTLPLD-QSP

Rat                           QGHEPQLFKTPQRNPSYHQFASTPIMFKEQSQTLPLD-QSP

Cat                           ISYEPNLFKTPQRKPC-HQLASTPIIFKEQGLIPPIYQQSP

Drosophila                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 3418 Breast cancer type 2 susceptibility protein
Modified residue 70 – 70 Phosphoserine



Literature citations
The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.
Gayther S.A.; Russell P.; Harrington P.; Antoniou A.C.; Easton D.F.; Ponder B.A.J.;
Am. J. Hum. Genet. 65:1021-1029(1999)
Cited for: VARIANTS OVARIAN CANCER PRO-75; HIS-2502 AND HIS-3098;
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.