Variant position: 569 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 TILANASALRPGDALNLTCV SVSSNPPVNLSWDKEGERLEG
Mouse TILANSSALRPGDALNLTCV SISSNPPVNLSLDKEGERLDD
Rat TILANSSALRPGDALNLTCV SISSNPPVNLSWDKEGERLED
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
23 – 1241 Nephrin
23 – 1055 Extracellular
544 – 635 Ig-like C2-type 6
553 – 553 N-linked (GlcNAc...) asparagine
564 – 564 N-linked (GlcNAc...) asparagine
577 – 577 N-linked (GlcNAc...) asparagine
567 – 623
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;
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.