Variant position: 208 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 EIDAICYYRMENASLLLSSL AHVSKAVQFLVQTTMKRLLAH
Mouse EIDAVCYYRMENASLLLSSL AHVSKAIQFLVQTTMKRLLAH
Rat EIDAVCYYRMENASLLLSSL AHVSKAIQFLVQTTMKRLLAH
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 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;
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.