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UniProtKB/Swiss-Prot Q8N1F7: Variant p.Arg388Trp

Nuclear pore complex protein Nup93
Gene: NUP93
Variant information

Variant position:  388
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Tryptophan (W) at position 388 (R388W, p.Arg388Trp).
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 large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In NPHS12; doesnt affect nuclear envelope localization; impairs nuclear pore complex assembly; doesn't abrogate interaction with NUP205; doesn't affect SMAD4 interaction; doesn't affect IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  388
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  819
The length of the canonical sequence.

Location on the sequence:   ENKLRLHYRRALRNNTDPYK  R AVYCIIGRCDVTDNQSEVAD
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                         ENKLRLHYRRALRNNTDPYKRAVYCIIGRCDVTDNQSEVAD

Mouse                         ENKLRLHYRRALRNNTDPYKRAVYCIIGRCDITDNQSEVAD

Rat                           ENKLRLHYRRALRNNTDPYKRAVYCIIGRCDITDNQSEVAD

Bovine                        ENKLRLHYRRALRNNTDPYKRAVYCIIGRCDVTDNQSEVAD

Xenopus laevis                ENKLRLHYRRAVRASTDPYKRAVYCIIGRCDVSDNHSEVAD

Xenopus tropicalis            ENKLRLHYRRAVRASTDPYKRVVYCIIGRCDVTDNHSEVAD

Zebrafish                     ENKLRLHYRRVLRNSADPYKRAVYCLIGKCDIGDNHGEVAD

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 – 819 Nuclear pore complex protein Nup93


Literature citations

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun D.A.; Sadowski C.E.; Kohl S.; Lovric S.; Astrinidis S.A.; Pabst W.L.; Gee H.Y.; Ashraf S.; Lawson J.A.; Shril S.; Airik M.; Tan W.; Schapiro D.; Rao J.; Choi W.I.; Hermle T.; Kemper M.J.; Pohl M.; Ozaltin F.; Konrad M.; Bogdanovic R.; Buescher R.; Helmchen U.; Serdaroglu E.; Lifton R.P.; Antonin W.; Hildebrandt F.;
Nat. Genet. 48:457-465(2016)
Cited for: INVOLVEMENT IN NPHS12; VARIANTS NPHS12 TRP-388; VAL-591 AND CYS-629; CHARACTERIZATION OF VARIANTS NPHS12 TRP-388; VAL-591 AND CYS-629; INTERACTION WITH IPO7; SMAD4 AND NUP205; SUBCELLULAR LOCATION; FUNCTION;

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.