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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35658: Variant p.Pro387Ser

Nuclear pore complex protein Nup214
Gene: NUP214
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Variant information Variant position: help 387 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Proline (P) to Serine (S) at position 387 (P387S, p.Pro387Ser). 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 medium size and hydrophobic (P) to small size and polar (S) 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
Variant description: help In IIAE9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 387 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 VDYTNQVEITISDEKTLPPA P VLMLLSTDGVLCPFYMINQN 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                         VDYTNQVEITISDE--KTLPPAPVLMLLSTDGVLCPFYMINQN

Mouse                         IDYTNEVEVTINEE--KTLPPAPVLLLLSTDGVLCPFYMIN

Caenorhabditis elegans        VDRSMTDEVLLNPDGSQRHRPSPLVLCLTNDGILTAHHIIS

Drosophila                    FDTSTTHQLTINE---KKLQTMPMVHVLSSDGELLSFNFLN
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 2 – 2090 Nuclear pore complex protein Nup214
Repeat 360 – 404 Blade 7
Region 41 – 404 Seven-bladed beta propeller
Region 236 – 1418 44 X 2 AA repeats of F-G



Literature citations
Pathogenic variants in NUP214 cause 'plugged' nuclear pore channels and acute febrile encephalopathy.
Fichtman B.; Harel T.; Biran N.; Zagairy F.; Applegate C.D.; Salzberg Y.; Gilboa T.; Salah S.; Shaag A.; Simanovsky N.; Ayoubieh H.; Sobreira N.; Punzi G.; Pierri C.L.; Hamosh A.; Elpeleg O.; Harel A.; Edvardson S.;
Am. J. Hum. Genet. 105:48-64(2019)
Cited for: FUNCTION; INVOLVEMENT IN IIAE9; VARIANTS IIAE9 CYS-38 AND SER-387; CHARACTERIZATION OF VARIANT IIAE9 CYS-38;
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.