Variant position: 260 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 SIAQDAKVALDSVTCIWGIK VERIEIKDVRLPAGLQHSLAV
Mouse SIAQDVKVALDAVTCIWGIK VERTEIKDVRLPAGLQHSLAV
Rat SIAQDVKVALDSVTCVWGIK VERTEIKDVRLPAGLQHSLAV
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
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S.; Gribouval O.; Esquivel E.L.; Moriniere V.; Tete M.J.; Legendre C.; Niaudet P.; Antignac C.;
Kidney Int. 66:571-579(2004)
Cited for: VARIANTS NPHS2 THR-29; LEU-118; CYS-168; HIS-168; SER-168; VAL-172; THR-208; 236-LEU--ARG-238 DEL; SER-238 AND GLU-260; VARIANTS VAL-61; GLN-237 AND VAL-242;
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A.; Khaliq S.; Shahid S.; Lanewala A.; Mubarak M.; Hashmi S.; Kazi J.; Masood T.; Hafeez F.; Naqvi S.A.; Rizvi S.A.; Mehdi S.Q.;
Cited for: VARIANTS NPHS2 ASN-126; GLU-260 AND SER-341;
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Guaragna M.S.; Lutaif A.C.; Piveta C.S.; Souza M.L.; de Souza S.R.; Henriques T.B.; Maciel-Guerra A.T.; Belangero V.M.; Guerra-Junior G.; De Mello M.P.;
BMC Med. Genet. 16:88-88(2015)
Cited for: VARIANTS NPHS2 GLN-229; GLU-260; VAL-284 AND LYS-310;
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