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UniProtKB/Swiss-Prot O60934: Variant p.Gln216Lys

Nibrin
Gene: NBN
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Variant information Variant position: help 216
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Lysine (K) at position 216 (Q216K, p.Gln216Lys).
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (K)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 754
Location on the sequence: help FYPPLDEPSIGSKNVDLSGR Q ERKQIFKGKTFIFLNAKQHK
Residue conservation: help 
Human                         FYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHK

Mouse                         FYPPIDEPAIGSKSVDLSGRHERKQIFKGKTFVFLNAKQHK

Rat                           FYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQHK

Chicken                       FYPSVDEPAIGIDNMDLSGHPERKKIFSGKTFVFLTAKQHK

Xenopus laevis                FIPSVDEPSLTPESLDLSENVKRKSIFKDKVFLFLNAKQYK

Zebrafish                     FRPQIDEPSLARDDVDLSARPERKSLFKGKTFLFLSSKQMK
Sequence annotation in neighborhood: help
TypePositionsDescription
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
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-105; GLN-185; LYS-216; LEU-266 AND ALA-497;
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.