UniProtKB/Swiss-Prot O60934: Variant p.Glu185Gln

Nibrin
Gene: NBN
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Variant information Variant position:

185 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glutamate (E) to Glutamine (Q) at position 185 (E185Q, p.Glu185Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and acidic (E) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs1805794 [ dbSNP | Ensembl ]

Sequence information Variant position:

185 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:

LICGRPIVKPEYFTEFLKAV E SKKQPPQIESFYPPLDEPSI 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                         LICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSI

Mouse                         LICGRPIIKPEYFSEFLKAVESKKQPPDIESFYPPIDEPAI

Rat                           LICGRPIVKPEYFSEFLKAVESKTQPPEIESFYPPIDEPAI

Chicken                       LICGRPIVKPEFFSELMKAVQSRQQLPTPESFYPSVDEPAI

Xenopus laevis                LICCKPIIKPDYFCELLHAIQEKRPLPDYRSFIPSVDEPSL

Zebrafish                     LLCCRPIVKPAFFSALSKAVQQKLPLPKAERFRPQIDEPSL

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
Chain	1 – 754	Nibrin
Region	111 – 328	Mediates interaction with SP100
Mutagenesis	176 – 176	Y -> A. Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation.

Literature citations
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R.; Vissinga C.; Platzer M.; Cerosaletti K.M.; Chrzanowska K.H.; Saar K.; Beckmann G.; Seemanova E.; Cooper P.R.; Nowak N.J.; Stumm M.; Weemaes C.M.R.; Gatti R.A.; Wilson R.K.; Digweed M.; Rosenthal A.; Sperling K.; Concannon P.; Reis A.;
Cell 93:467-476(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; INVOLVEMENT IN NIJMEGEN BREAKAGE SYNDROME; VARIANT GLN-185; The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.
Carney J.P.; Maser R.S.; Olivares H.; Davis E.M.; Le Beau M.; Yates J.R. III; Hays L.; Morgan W.F.; Petrini J.H.J.;
Cell 93:477-486(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 189-209; 238-250; 289-299; 300-320; 335-351; 395-405; 409-423; 426-441; 457-465; 503-529; 552-568; 595-613; 625-635; 653-660; 671-683 AND 736-745; VARIANT GLN-185; INTERACTION WITH MRE11 AND RAD50; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLN-185; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-105; GLN-185; LYS-216; LEU-266 AND ALA-497; Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
Heikkinen K.; Karppinen S.-M.; Soini Y.; Maekinen M.; Winqvist R.;
J. Med. Genet. 40:E131-E131(2003)
Cited for: VARIANT BC PHE-150; VARIANTS GLN-185 AND ILE-574; Polymorphisms in DNA repair and metabolic genes in bladder cancer.
Sanyal S.; Festa F.; Sakano S.; Zhang Z.; Steineck G.; Norming U.; Wijkstroem H.; Larsson P.; Kumar R.; Hemminki K.;
Carcinogenesis 25:729-734(2004)
Cited for: VARIANT GLN-185;

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