Variant position: 802 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1241 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 EEDQSLDDMEKISRGPTGRL RIHHAKLAQAGAYQCIVDNGV
Mouse EEELNLDDMEKMSKGSTGRL RIRQAKLSQAGAYQCIVDNGV
Rat EEDLNLDDMEKVSKGSTGRL RIRQAKLSQAGAYQCIVDNGV
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.
Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.
Lenkkeri U.; Maennikkoe M.; McCready P.; Lamerdin J.; Gribouval O.; Niaudet P.M.; Antignac C.K.; Kashtan C.E.; Homberg C.; Olsen A.; Kestilae M.; Tryggvason K.;
Am. J. Hum. Genet. 64:51-61(1999)
Cited for: VARIANTS LYS-117; GLN-408 AND SER-1077; VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; 205-THR--ARG-207 DELINS ILE; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140;
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L.; Done S.C.; Khoshnoodi J.; Bertorello A.; Wartiovaara J.; Berggren P.O.; Tryggvason K.;
Hum. Mol. Genet. 10:2637-2644(2001)
Cited for: CHARACTERIZATION OF VARIANTS NPHS1 SER-64; ASN-171; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140; CHARACTERIZATION OF VARIANT GLN-408;
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O.; Martin P.; Lenkkeri U.; Tryggvason K.;
Hum. Mutat. 17:368-373(2001)
Cited for: VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; LEU-368; SER-368; VAL-376; TRP-379; PHE-417; GLN-460; TYR-465; PHE-528; CYS-558; GLN-610; PHE-623; CYS-724; VAL-739; CYS-743; TRP-802; PRO-802; ASP-806; VAL-819 AND PHE-834; VARIANTS LYS-117; ARG-264; GLN-408; LYS-447; ARG-617; ASP-725; VAL-851 AND SER-1077;
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