Variant position: 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 383 The length of the canonical sequence.
Location on the 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.
Human DTYHKVDLRLQTLEIPFHEI VTKDMFIMEIDAICYYRMENA
Mouse DTYHKVDLRLQTLEIPFHEV VTKDMFIMEIDAVCYYRMENA
Rat DTYHKVDLRLQTLEIPFHEV VTKDMFIMEIDAVCYYRMENA
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.
Type Positions Description
1 – 383 Podocin
124 – 383 Cytoplasmic
179 – 246 Missing. In isoform 2.
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N.; Gribouval O.; Roselli S.; Benessy F.; Lee H.; Fuchshuber A.; Dahan K.; Gubler M.-C.; Niaudet P.; Antignac C.;
Nat. Genet. 24:349-354(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS NPHS2 RP CYS-92; GLN-138; GLY-160; MET-180 AND TRP-291; VARIANT LEU-20;
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
Basiratnia M.; Yavarian M.; Torabinezhad S.; Erjaee A.;
Iran. J. Kidney Dis. 7:357-362(2013)
Cited for: VARIANTS NPHS2 LEU-118; GLY-160; CYS-168; MET-180 AND SER-238;
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