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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60934: Variant p.Val210Phe

Nibrin
Gene: NBN
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Variant information Variant position: help 210
Type of variant: help LB/B
Residue change: help From Valine (V) to Phenylalanine (F) at position 210 (V210F, p.Val210Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 210
Protein sequence length: help 754
Location on the sequence: help PPQIESFYPPLDEPSIGSKN V DLSGRQERKQIFKGKTFIFL
Residue conservation: help 
Human                         PPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFL

Mouse                         PPDIESFYPPIDEPAIGSKSVDLSGRHERKQIFKGKTFVFL

Rat                           PPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFL

Chicken                       LPTPESFYPSVDEPAIGIDNMDLSGHPERKKIFSGKTFVFL

Xenopus laevis                LPDYRSFIPSVDEPSLTPESLDLSENVKRKSIFKDKVFLFL

Zebrafish                     LPKAERFRPQIDEPSLARDDVDLSARPERKSLFKGKTFLFL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 754 Nibrin
Region 111 – 328 Mediates interaction with SP100



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.