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UniProtKB/Swiss-Prot Q8WUM0: Variant p.Ser974Arg

Nuclear pore complex protein Nup133
Gene: NUP133
Variant information

Variant position:  974
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 Serine (S) to Arginine (R) at position 974 (S974R, p.Ser974Arg).
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 small size and polar (S) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In NPHS18; loss of function in nephrogenesis; unable to rescue morpholino-induced nephrogenesis defects in Xenopus; decreased interaction with NUP107.
Any additional useful information about the variant.

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



Sequence information

Variant position:  974
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1156
The length of the canonical sequence.

Location on the sequence:   LGLANMETRYFAKKKTLLGL  S KLAALASDFSEDMLQEKIEE
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                         LGLANMETR---YFAKKKTLLGLSKLAALASDFSEDMLQEKIEE

Mouse                         LGLANMETR---YFAKKKTLLGLSKLAALASDISEDRLQEK

Zebrafish                     YNQANMETR---YFSKKKTLLALSKLTALASDMPEPVHRRQ

Caenorhabditis elegans        MSLADAETK---SFSKFVEFLTRAYYCA-CSSIDGTDVSEV

Drosophila                    YELAQCETE---FVARKKSMLSLAKLAAFAA--AESDLTAQ

Baker's yeast                 KNITVDDSKKGESLSECELHLNVAKLSSLLVEKDNLDINT-

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 – 1156 Nuclear pore complex protein Nup133
Helix 964 – 980


Literature citations

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun D.A.; Lovric S.; Schapiro D.; Schneider R.; Marquez J.; Asif M.; Hussain M.S.; Daga A.; Widmeier E.; Rao J.; Ashraf S.; Tan W.; Lusk C.P.; Kolb A.; Jobst-Schwan T.; Schmidt J.M.; Hoogstraten C.A.; Eddy K.; Kitzler T.M.; Shril S.; Moawia A.; Schrage K.; Khayyat A.I.A.; Lawson J.A.; Gee H.Y.; Warejko J.K.; Hermle T.; Majmundar A.J.; Hugo H.; Budde B.; Motameny S.; Altmueller J.; Noegel A.A.; Fathy H.M.; Gale D.P.; Waseem S.S.; Khan A.; Kerecuk L.; Hashmi S.; Mohebbi N.; Ettenger R.; Serdaroglu E.; Alhasan K.A.; Hashem M.; Goncalves S.; Ariceta G.; Ubetagoyena M.; Antonin W.; Baig S.M.; Alkuraya F.S.; Shen Q.; Xu H.; Antignac C.; Lifton R.P.; Mane S.; Nuernberg P.; Khokha M.K.; Hildebrandt F.;
J. Clin. Invest. 128:4313-4328(2018)
Cited for: FUNCTION; INTERACTION WITH NUP107; INVOLVEMENT IN NPHS18; VARIANTS NPHS18 GLY-231; ARG-974 AND SER-1055; CHARACTERIZATION OF VARIANTS NPHS18 GLY-231; ARG-974 AND SER-1055;

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.