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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TEM1: Variant p.Val1787Met

Nuclear pore membrane glycoprotein 210
Gene: NUP210
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Variant information Variant position: help 1787 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 Valine (V) to Methionine (M) at position 1787 (V1787M, p.Val1787Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 1787 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1887 The length of the canonical sequence.
Location on the sequence: help TFSSPVTNQAIAIPVTVAFV V DRRGPGPYGASLFQHFLDSY 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                         TFSSPVTNQAIAIPVTVAFVVDRRGPGP-YGASLFQHFLDSY

Mouse                         TFSSPATNQAITIPVTVAFVLDRRGPGP-YGASLLSHFLDS

Rat                           TFSSPATNQAITIPVTVAFVLDRRGPGP-YGASLLSHFLDS

Drosophila                    LVVSPDTKQSIEVPIIGNTMLAPKCTDRRYGGPLVYRILEN

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 27 – 1887 Nuclear pore membrane glycoprotein 210
Topological domain 27 – 1808 Perinuclear space
Alternative sequence 968 – 1887 Missing. In isoform 2.



Literature citations
Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Ishikawa K.; Suyama M.; Kikuno R.; Hirosawa M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:355-364(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 965-1887 (ISOFORM 1); VARIANTS SER-1752 AND MET-1787; TISSUE SPECIFICITY; Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
Otsuki T.; Ota T.; Nishikawa T.; Hayashi K.; Suzuki Y.; Yamamoto J.; Wakamatsu A.; Kimura K.; Sakamoto K.; Hatano N.; Kawai Y.; Ishii S.; Saito K.; Kojima S.; Sugiyama T.; Ono T.; Okano K.; Yoshikawa Y.; Aotsuka S.; Sasaki N.; Hattori A.; Okumura K.; Nagai K.; Sugano S.; Isogai T.;
DNA Res. 12:117-126(2005)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1405-1887 (ISOFORM 1); VARIANTS SER-1752 AND MET-1787; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1460-1887 (ISOFORM 1); VARIANTS SER-1752 AND MET-1787;
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.