Variant position: 591 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 819 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 SELVIESREFDMILGKLEND GSRKPGVIDKFTSDTKPIINK
Mouse SELVIESREFDMILGKLEND GSRKPGVIDKFTSDTKPIINK
Rat SELVIESREFDMILGKLEND GSRKPGVIDKFTSDTKPIINK
Bovine SELVIESREFDMILGKLEND GSRKPGVIDKFTSDTKPIINK
Xenopus laevis SELVIESREFDMLLGKLEKD GSRKPGAIDKFTRDTKTIINK
Xenopus tropicalis SELVIESREFDMLLGKLEKD GSRKPGAIDKFTRDTKTIINK
Zebrafish SELVIESREFDMLLGRLEKD GSRKPGVIDKFAGDTRAIITK
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
1 – 819 Nuclear pore complex protein Nup93
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun D.A.; Sadowski C.E.; Kohl S.; Lovric S.; Astrinidis S.A.; Pabst W.L.; Gee H.Y.; Ashraf S.; Lawson J.A.; Shril S.; Airik M.; Tan W.; Schapiro D.; Rao J.; Choi W.I.; Hermle T.; Kemper M.J.; Pohl M.; Ozaltin F.; Konrad M.; Bogdanovic R.; Buescher R.; Helmchen U.; Serdaroglu E.; Lifton R.P.; Antonin W.; Hildebrandt F.;
Nat. Genet. 48:457-465(2016)
Cited for: INVOLVEMENT IN NPHS12; VARIANTS NPHS12 TRP-388; VAL-591 AND CYS-629; CHARACTERIZATION OF VARIANTS NPHS12 TRP-388; VAL-591 AND CYS-629; INTERACTION WITH IPO7; SMAD4 AND NUP205; SUBCELLULAR LOCATION; FUNCTION;
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.