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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99567: Variant p.Asp434Tyr

Nuclear pore complex protein Nup88
Gene: NUP88
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Variant information Variant position: help 434 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 Aspartate (D) to Tyrosine (Y) at position 434 (D434Y, p.Asp434Tyr). 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 acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 FADS4; no effect on localization to the nuclear pore complex; no effect on interaction with NUP214 and NUP62. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 434 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 741 The length of the canonical sequence.
Location on the sequence: help HSVGLTWIHKLHKFLGSDEE D KDSLQELSTEQKCFVEHILC 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                         HSVGLTWIHKLHKFLGSDEEDKDSLQELSTEQKCFVEHILC

Mouse                         HSVGLTWIHKLHKFLGSDEEDKDSLQELTAEQKCFVEHILC

Rat                           HSVGLTWIHKLHKFLGSDEEDKDSLQELTAEQKCFVEHILC

Zebrafish                     HSVGLTWFKKLHKFLESDEEDKDSLQELAAEQRCIVEHILC

Drosophila                    HAVTVSFIAELQRYLES-ESDEDRL-ELAVSASA--EYILC
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 – 741 Nuclear pore complex protein Nup88
Modified residue 437 – 437 Phosphoserine
Modified residue 442 – 442 Phosphoserine
Helix 432 – 442



Literature citations
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E.; Cabochette P.; Filosa A.; Juehlen R.; Komatsuzaki S.; Hezwani M.; Dickmanns A.; Martinelli V.; Vermeersch M.; Supply L.; Martins N.; Pirenne L.; Ravenscroft G.; Lombard M.; Port S.; Spillner C.; Janssens S.; Roets E.; Van Dorpe J.; Lammens M.; Kehlenbach R.H.; Ficner R.; Laing N.G.; Hoffmann K.; Vanhollebeke B.; Fahrenkrog B.;
PLoS Genet. 14:E1007845-E1007845(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH NUP62; NUP98 AND NUP214; INVOLVEMENT IN FADS4; VARIANTS FADS4 TYR-434; 509-ARG--PHE-741 DEL AND GLU-634 DEL; CHARACTERIZATION OF VARIANTS FADS4 TYR-434; 509-ARG--PHE-741 DEL AND GLU-634 DEL;
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.