Variant position: 446 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 KETFKKSLILNVKYPAQKLW IEGPPEGQKLRAGTRVRLVCL
Mouse KETFKKSLTLNVKYPAQKLW IEGPPEGQSIRTGTRVRLVCL
Rat KETFKKSLTLNVKYPAQKLW IEGPPEGQYIRTGTRVRLVCL
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.
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: a novel mutation is described.
Guaragna M.S.; Cleto T.L.; Souza M.L.; Lutaif A.C.; de Castro L.C.; Penido M.G.; Maciel-Guerra A.T.; Belangero V.M.; Guerra-Junior G.; De Mello M.P.;
Cited for: VARIANTS NPHS1 THR-172 DEL; ARG-264; ASN-446; HIS-711 AND MET-736; VARIANT SER-1077;
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