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UniProtKB/Swiss-Prot P57740: Variant p.Asp831Ala

Nuclear pore complex protein Nup107
Gene: NUP107
Variant information

Variant position:  831
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Alanine (A) at position 831 (D831A, p.Asp831Ala).
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 medium size and acidic (D) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Nephrotic syndrome 11 (NPHS11) [MIM:616730]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. {ECO:0000269|PubMed:26411495, ECO:0000269|PubMed:30179222}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In NPHS11; decreased interaction with NUP133; changed localization to the nuclear pore with relocalization to the cytoplasm.
Any additional useful information about the variant.

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

Sequence information

Variant position:  831
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  925
The length of the canonical sequence.

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.


Mouse                         ADVKEKMYNVLLFVDGGWMVD--VREDAED------DPERT

Rat                           ADVKEKMYNVLLFVDGGWMVD--VREDAEE------DPERA


Fission yeast                 RKCVKSFTDLL---QANWLHPSTLELKPDD------DPLLY

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.

Chain 1 – 925 Nuclear pore complex protein Nup107

Literature citations

Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome.
Miyake N.; Tsukaguchi H.; Koshimizu E.; Shono A.; Matsunaga S.; Shiina M.; Mimura Y.; Imamura S.; Hirose T.; Okudela K.; Nozu K.; Akioka Y.; Hattori M.; Yoshikawa N.; Kitamura A.; Cheong H.I.; Kagami S.; Yamashita M.; Fujita A.; Miyatake S.; Tsurusaki Y.; Nakashima M.; Saitsu H.; Ohashi K.; Imamoto N.; Ryo A.; Ogata K.; Iijima K.; Matsumoto N.;
Am. J. Hum. Genet. 97:555-566(2015)

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.