Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 754 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VMVSVKVTIKTICALICGRP IVKPEYFTEFLKAVESKKQPP
Mouse VMSAVKVTIKTICALICGRP IIKPEYFSEFLKAVESKKQPP
Rat AMSSVKVTIKTICALICGRP IVKPEYFSEFLKAVESKTQPP
Chicken IMESVKVTVKTICALICGRP IVKPEFFSELMKAVQSRQQLP
Zebrafish VMPTVKVTIKTICALLCCRP IVKPAFFSALSKAVQQKLPLP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 754 Nibrin
105 – 181 BRCT
111 – 328 Mediates interaction with SP100
176 – 176 Y -> A. Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation.
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;
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
Shimada H.; Shimizu K.; Mimaki S.; Sakiyama T.; Mori T.; Shimasaki N.; Yokota J.; Nakachi K.; Ohta T.; Ohki M.;
Hum. Genet. 115:372-376(2004)
Cited for: VARIANT VAL-171;
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