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UniProtKB/Swiss-Prot Q9HB58: Variant p.Gly299Arg

Sp110 nuclear body protein
Gene: SP110
Variant information

Variant position:  299
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 Glycine (G) to Arginine (R) at position 299 (G299R, p.Gly299Arg).
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 glycine (G) to large size and basic (R)
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.



Sequence information

Variant position:  299
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  689
The length of the canonical sequence.

Location on the sequence:   KRKRCIWSTPKRRHKKKSLP  G GTASSRHGIQKKLKRVDQVP
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                         KRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVP

Mouse                         RKKRPNWSNSKRRRQKK------------------------

Rat                           KRKSCIWSNSKRRRQKK------------------------

Baker's yeast                 QLENDLFVIKKTHSESKTITDNELESKDKLIKILENDLKVA

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.

TypePositionsDescription
Chain 1 – 689 Sp110 nuclear body protein
Region 231 – 385 Disordered
Compositional bias 275 – 299 Basic residues


Literature citations

Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins.
Kadereit S.; Gewert D.R.; Galabru J.; Hovanessian A.G.; Meurs E.F.;
J. Biol. Chem. 268:24432-24441(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); PHOSPHORYLATION (ISOFORM 2); VARIANT ARG-299;

Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator.
Bloch D.B.; Nakajima A.; Gulick T.; Chiche J.-D.; Orth D.; de La Monte S.M.; Bloch K.D.;
Mol. Cell. Biol. 20:6138-6146(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); SUBCELLULAR LOCATION; VARIANTS ARG-299 AND THR-523;

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] (ISOFORMS 6 AND 7); VARIANTS ARG-112; LYS-207; ARG-299 AND SER-425;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5); VARIANT ARG-299;

No associations of human pulmonary tuberculosis with Sp110 variants.
Thye T.; Browne E.N.; Chinbuah M.A.; Gyapong J.; Osei I.; Owusu-Dabo E.; Niemann S.; Ruesch-Gerdes S.; Horstmann R.D.; Meyer C.G.;
J. Med. Genet. 43:E32-E32(2006)
Cited for: VARIANTS VAL-128; VAL-206; LYS-207; ARG-299; MET-367 AND SER-425;

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
Tosh K.; Campbell S.J.; Fielding K.; Sillah J.; Bah B.; Gustafson P.; Manneh K.; Lisse I.; Sirugo G.; Bennett S.; Aaby P.; McAdam K.P.W.J.; Bah-Sow O.; Lienhardt C.; Kramnik I.; Hill A.V.S.;
Proc. Natl. Acad. Sci. U.S.A. 103:10364-10368(2006)
Cited for: VARIANTS ARG-112; LYS-207; GLY-212; VAL-249; GLY-267; ARG-299; SER-425; THR-523 AND ILE-579;

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.