Variant position: 264 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 VIEWPGLDEGHVRAGQSLEL PCVARGGNPLATLQWLKNGQP
Mouse VIDWPGLNEGHVRAGENLEL PCIARGGNPPATLQWLKNGKP
Rat VIDWPGLNEGHVRAGENLEL PCTARGGNPPATLQWLKNGKP
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.
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;
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A.; Khaliq S.; Shahid S.; Lanewala A.; Mubarak M.; Hashmi S.; Kazi J.; Masood T.; Hafeez F.; Naqvi S.A.; Rizvi S.A.; Mehdi S.Q.;
Cited for: VARIANTS NPHS1 ILE-188; LYS-189; PRO-237; TRP-256; ARG-264; ILE-294; ILE-608; THR-912; ASN-1016 AND VAL-1020; VARIANT GLN-408;
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
Evers C.; Paramasivam N.; Hinderhofer K.; Fischer C.; Granzow M.; Schmidt-Bacher A.; Eils R.; Steinbeisser H.; Schlesner M.; Moog U.;
Eur. J. Hum. Genet. 23:1627-1633(2015)
Cited for: VARIANT NPHS1 ARG-264;
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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