Variant position: 385 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 SRSDQLKRHQRRHTGVKPFQ CKTCQRKFSRSDHLKTHTRTH
Mouse SRSDQLKRHQRRHTGVKPFQ CKTCQRKFSRSDHLKTHTRTH
Rat SRSDQLKRHQRRHTGVKPFQ CKTCQRKFSRSDHLKTHTRTH
Pig SRSDQLKRHQRRHTGVKPFQ CKTCQRKFSRSDHLKTHTRTH
Xenopus tropicalis SRSDQLKRHQRRHTGIKPFQ CKTCQRKFSRSDHLKTHTRTH
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
366 – 366 R -> A. Strongly reduced binding of DNA and RNA.
372 – 372 R -> A. Strongly reduced binding of DNA and RNA.
394 – 394 R -> AS. Strongly reduced binding of DNA and RNA.
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Kikuchi H.; Takata A.; Akasaka Y.; Fukuzawa R.; Yoneyama H.; Kurosawa Y.; Honda M.; Kamiyama Y.; Hata J.;
J. Med. Genet. 35:45-48(1998)
Cited for: VARIANTS DDS TYR-355; HIS-366 AND ARG-385;
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;
Constitutional WT1 correlate with clinical features in children with progressive nephropathy.
Takata A.; Kikuchi H.; Fukuzawa R.; Ito S.; Honda M.; Hata J.;
J. Med. Genet. 37:698-701(2000)
Cited for: VARIANTS DDS ARG-342; TYR-355; HIS-366; ARG-385; PHE-388; TRP-394 AND ASN-396; VARIANT NPHS4 GLN-312;
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.