Variant position: 291 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 PAGLQHSLAVEAEAQRQAKV RMIAAEAEKAASESLRMAAEI
Mouse PAGLQHSLAVEAEAQRQAKV RVIAAEGEKAASESLRMAAEI
Rat PAGLQHSLAVEAEAQRQAKV RVIAAEGEKAASESLRMAAEI
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, 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;
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Buescher A.K.; Kranz B.; Buescher R.; Hildebrandt F.; Dworniczak B.; Pennekamp P.; Kuwertz-Broeking E.; Wingen A.M.; John U.; Kemper M.; Monnens L.; Hoyer P.F.; Weber S.; Konrad M.;
Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010)
Cited for: VARIANTS NPHS2 138-ARG--LEU-383 DEL; GLN-138; HIS-168; GLN-229; TRP-291; VAL-310 AND ARG-328; VARIANTS MET-290 AND VAL-297;
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.