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UniProtKB/Swiss-Prot Q8N1F7: Variant p.Tyr629Cys

Nuclear pore complex protein Nup93
Gene: NUP93
Variant information

Variant position:  629
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 Tyrosine (Y) to Cysteine (C) at position 629 (Y629C, p.Tyr629Cys).
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 aromatic (Y) to medium size and polar (C)
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

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

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



Sequence information

Variant position:  629
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:   INKVASVAENKGLFEEAAKL  Y DLAKNADKVLELMNKLLSPV
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                         INKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPV

Mouse                         INKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPV

Rat                           INKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPV

Bovine                        INKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPI

Xenopus laevis                INKVASVAENKGLFEEAAKLYDLAKNPDKVLELTNKLLSPV

Xenopus tropicalis            INKVASVAENKGLFEEAAKLYDLAKNPDKVLELTNKLLSPV

Zebrafish                     ITKVASEAENKGLFEEAVKLYELAKNADKVLELMNKLLSPV

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.