UniProtKB/SwissProt variant VAR

Breast cancer type 2 susceptibility protein
Gene: BRCA2
Feedback?

Variant information Variant position:

53
Type of variant:

LP/P [Disclaimer]
Residue change:

From Lysine (K) to Arginine (R) at position 53 (K53R, p.Lys53Arg).
Physico-chemical properties:

Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score:

2
Variant description:

In BC.
Other resources:

Variant rs397507595 [ dbSNP | Ensembl ]

Sequence information Variant position:

53
Protein sequence length:

3418
Location on the sequence:

EELSSEAPPYNSEPAEESEH K NNNYEPNLFKTPQRKPSYNQ
Residue conservation:

Human                         EELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQ

Mouse                         EELSSEAPPYNSEPPEESEYKPHGYEPQLFKTPQRNPPYHQ

Rat                           EELFSEAPPYNTEHPEESEYKPQGHEPQLFKTPQRNPSYHQ

Cat                           EELCLEAPPYNSEPTEESGYK-ISYEPNLFKTPQRKPC-HQ

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

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 3418	Breast cancer type 2 susceptibility protein
Region	37 – 68	Disordered
Modified residue	70 – 70	Phosphoserine

Literature citations
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.
Katagiri T.; Kasumi F.; Yoshimoto M.; Nomizu T.; Asaishi K.; Abe R.; Tsuchiya A.; Sugano M.; Takai S.; Yoneda M.; Fukutomi T.; Nanba K.; Makita M.; Okazaki H.; Hirata K.; Okazaki M.; Furutsuma Y.; Morishita Y.; Iino Y.; Karino T.; Ayabe H.; Hara S.; Kajiwara T.; Houga S.; Shimizu T.; Toda M.; Yamazaki Y.; Uchida T.; Kunitomo K.; Sonoo H.; Kurebayashi J.; Shimotsuma K.; Nakamura Y.; Miki Y.;
J. Hum. Genet. 43:42-48(1998)
Cited for: VARIANTS BC LEU-32; ARG-53; LEU-81; ARG-201; ALA-211; SER-222 AND THR-3118;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51587: Variant p.Lys53Arg