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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60500: Variant p.Ser350Pro

Nephrin
Gene: NPHS1
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Variant information Variant position: help 350 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 Serine (S) to Proline (P) at position 350 (S350P, p.Ser350Pro). 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 small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In NPHS1; lack of protein expression on the cell surface. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1241 The length of the canonical sequence.
Location on the sequence: help HGITLQVTFPPSAIIILGSA S QTENKNVTLSCVSKSSRPRV 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                         HGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRV

Mouse                         RSITLQVTFPPSAVTILGSTSQSENKNVTLCCLTKSSRPRV

Rat                           RSITLQVTFPPSAITILGSVSQSENKNVTLCCLTKSSRPRV
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 23 – 1241 Nephrin
Topological domain 23 – 1055 Extracellular
Domain 340 – 434 Ig-like C2-type 4
Glycosylation 356 – 356 N-linked (GlcNAc...) asparagine



Literature citations
Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.
Lenkkeri U.; Maennikkoe M.; McCready P.; Lamerdin J.; Gribouval O.; Niaudet P.M.; Antignac C.K.; Kashtan C.E.; Homberg C.; Olsen A.; Kestilae M.; Tryggvason K.;
Am. J. Hum. Genet. 64:51-61(1999)
Cited for: VARIANTS LYS-117; GLN-408 AND SER-1077; VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; 205-THR--ARG-207 DELINS ILE; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140; Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L.; Done S.C.; Khoshnoodi J.; Bertorello A.; Wartiovaara J.; Berggren P.O.; Tryggvason K.;
Hum. Mol. Genet. 10:2637-2644(2001)
Cited for: CHARACTERIZATION OF VARIANTS NPHS1 SER-64; ASN-171; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140; CHARACTERIZATION OF VARIANT GLN-408; Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O.; Martin P.; Lenkkeri U.; Tryggvason K.;
Hum. Mutat. 17:368-373(2001)
Cited for: VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; LEU-368; SER-368; VAL-376; TRP-379; PHE-417; GLN-460; TYR-465; PHE-528; CYS-558; GLN-610; PHE-623; CYS-724; VAL-739; CYS-743; TRP-802; PRO-802; ASP-806; VAL-819 AND PHE-834; VARIANTS LYS-117; ARG-264; GLN-408; LYS-447; ARG-617; ASP-725; VAL-851 AND SER-1077; Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb D.S.; Chernin G.; Heeringa S.F.; Matejas V.; Held S.; Vega-Warner V.; Bockenhauer D.; Vlangos C.N.; Moorani K.N.; Neuhaus T.J.; Kari J.A.; MacDonald J.; Saisawat P.; Ashraf S.; Ovunc B.; Zenker M.; Hildebrandt F.;
Nephrol. Dial. Transplant. 25:2970-2976(2010)
Cited for: VARIANTS NPHS1 VAL-107; LEU-167; THR-172 DEL; 205-THR--ARG-207 DELINS ILE; CYS-299; HIS-340; GLU-347; PRO-350; ARG-366; CYS-367; TRP-407; GLN-460; CYS-558; ASN-572; GLY-586; ARG-587; PHE-623; LYS-673; CYS-681; CYS-743; PRO-910; SER-976 AND CYS-1140; VARIANT GLN-408;
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.