Variant position: 290 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 LPAGLQHSLAVEAEAQRQAK VRMIAAEAEKAASESLRMAAE
Mouse LPAGLQHSLAVEAEAQRQAK VRVIAAEGEKAASESLRMAAE
Rat LPAGLQHSLAVEAEAQRQAK VRVIAAEGEKAASESLRMAAE
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
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;
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
Reiterova J.; Safrankova H.; Obeidova L.; Stekrova J.; Maixnerova D.; Merta M.; Tesar V.;
Folia Biol. (Praha) 58:64-68(2012)
Cited for: VARIANT NPHS2 MET-290;
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A.; Csohany R.; Szabo A.; Arkossy O.; Sallay P.; Moriniere V.; Vega-Warner V.; Nyiro G.; Lakatos O.; Szabo T.; Lipska B.S.; Schaefer F.; Antignac C.; Reusz G.; Tulassay T.; Tory K.;
Pediatr. Nephrol. 28:751-757(2013)
Cited for: VARIANTS NPHS2 GLN-138 AND MET-290;
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