Variant position: 256 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 VLFPPGPPVIEWPGLDEGHV RAGQSLELPCVARGGNPLATL
Mouse ILFPPGPPVIDWPGLNEGHV RAGENLELPCIARGGNPPATL
Rat ILFPPGPPVIDWPGLNEGHV RAGENLELPCTARGGNPPATL
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.
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Heeringa S.F.; Vlangos C.N.; Chernin G.; Hinkes B.; Gbadegesin R.; Liu J.; Hoskins B.E.; Ozaltin F.; Hildebrandt F.;
Nephrol. Dial. Transplant. 23:3527-3533(2008)
Cited for: VARIANTS NPHS1 TRP-256; CYS-367; CYS-412; SER-519; ARG-569 AND GLY-709;
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;
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