Variant position: 394 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 449 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 QRRHTGVKPFQCKTCQRKFS RSDHLKTHTRTHTGKTSEKPF
Mouse QRRHTGVKPFQCKTCQRKFS RSDHLKTHTRTHTGKTSEKPF
Rat QRRHTGVKPFQCKTCQRKFS RSDHLKTHTRTHTGKTSEKPF
Pig QRRHTGVKPFQCKTCQRKFS RSDHLKTHTRTHTGKTSEKPF
Xenopus tropicalis QRRHTGIKPFQCKTCQRKFS RSDHLKTHTRTHTG---EKPF
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 – 449 Wilms tumor protein
383 – 405 C2H2-type 3
393 – 401 Important for interaction with target DNA
394 – 394 R -> AS. Strongly reduced binding of DNA and RNA.
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
Jeanpierre C.; Denamur E.; Henry I.; Cabanis M.-O.; Luce S.; Cecille A.; Elion J.; Peuchmaur M.; Loirat C.; Niaudet P.; Gubler M.-C.; Junien C.;
Am. J. Hum. Genet. 62:824-833(1998)
Cited for: VARIANTS NPHS4 TYR-377; LEU-383 AND ASN-396; VARIANTS DDS CYS-366; GLN-394; TRP-394 AND PRO-398; VARIANT WT1 ASN-223;
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.
Schumacher V.; Schaerer K.; Wuehl E.; Altrogge H.; Bonzel K.-E.; Guschmann M.; Neuhaus T.J.; Pollastro R.M.; Kuwertz-Broeking E.; Bulla M.; Tondera A.-M.; Mundel P.; Helmchen U.; Waldherr R.; Weirich A.; Royer-Pokora B.;
Kidney Int. 53:1594-1600(1998)
Cited for: VARIANTS NPHS4 LEU-364; HIS-366; CYS-379; ARG-385; GLN-394; TRP-394 AND ASN-396;
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Buescher A.K.; Kranz B.; Buescher R.; Hildebrandt F.; Dworniczak B.; Pennekamp P.; Kuwertz-Broeking E.; Wingen A.M.; John U.; Kemper M.; Monnens L.; Hoyer P.F.; Weber S.; Konrad M.;
Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010)
Cited for: VARIANTS NPHS4 ARG-388; GLN-394; TRP-394 AND PRO-397;
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.