UniProtKB/SwissProt variant VAR

Nibrin
Gene: NBN
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Variant information Variant position:

215
Type of variant:

LB/B
Residue change:

From Arginine (R) to Tryptophan (W) at position 215 (R215W, p.Arg215Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Other resources:

Variant rs34767364 [ dbSNP | Ensembl ]

Sequence information Variant position:

215
Protein sequence length:

754
Location on the sequence:

SFYPPLDEPSIGSKNVDLSG R QERKQIFKGKTFIFLNAKQH
Residue conservation:

Human                         SFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQH

Mouse                         SFYPPIDEPAIGSKSVDLSGRHERKQIFKGKTFVFLNAKQH

Rat                           SFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQH

Chicken                       SFYPSVDEPAIGIDNMDLSGHPERKKIFSGKTFVFLTAKQH

Xenopus laevis                SFIPSVDEPSLTPESLDLSENVKRKSIFKDKVFLFLNAKQY

Zebrafish                     RFRPQIDEPSLARDDVDLSARPERKSLFKGKTFLFLSSKQM

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 754	Nibrin
Region	111 – 328	Mediates interaction with SP100
Mutagenesis	233 – 233	K -> A. Abolished recruitment to DNA damage sites.
Mutagenesis	233 – 233	K -> R. Does not affect recruitment to DNA damage sites.

Literature citations
Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
Varon R.; Reis A.; Henze G.; von Einsiedel H.G.; Sperling K.; Seeger K.;
Cancer Res. 61:3570-3572(2001)
Cited for: VARIANTS LEU-93; ASN-95; VAL-171; PHE-210 AND TRP-215; POSSIBLE INVOLVEMENT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA;

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 O60934: Variant p.Arg215Trp