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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N4C6: Variant p.Gly1320Glu

Ninein
Gene: NIN
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Variant information Variant position: help 1320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Glutamate (E) at position 1320 (G1320E, p.Gly1320Glu). 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: help Change from glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2090 The length of the canonical sequence.
Location on the sequence: help VTETFLSLEKSYDEVKIENE G LNVLVLRLQGKIEKLQESVV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VTETFLSLEKSYDEVKIENEGLNVLVLRLQGKIEK-LQESVV

Mouse                         VMETFLSLEKSYDEVKVENEELRALVLRLQGKMEKVLGRAA

Sequence annotation in neighborhood: help 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 – 2090 Ninein
Region 802 – 1505 Important for interaction with CEP170
Coiled coil 1181 – 1341
Alternative sequence 800 – 1512 Missing. In isoform 6 and isoform 9.



Literature citations
Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta.
Hong Y.-R.; Chen C.-H.; Chang J.-H.; Wang S.-K.; Sy W.-D.; Chou C.-K.; Howng S.-L.;
Biochim. Biophys. Acta 1492:513-516(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH GSK3B; VARIANTS PRO-1125 AND GLU-1320; Genomic organization and molecular characterization of the human ninein gene.
Hong Y.-R.; Chen C.-H.; Chuo M.-H.; Liou S.-Y.; Howng S.-L.;
Biochem. Biophys. Res. Commun. 279:989-995(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS PRO-1125 AND GLU-1320; Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation.
Stillwell E.E.; Zhou J.; Joshi H.C.;
Cell Cycle 3:923-930(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); FUNCTION; ALTERNATIVE SPLICING; SUBCELLULAR LOCATION; VARIANTS PRO-1125 AND GLU-1320; DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-1320;
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.