Variant position: 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 TKDGWVYYANHTEEKTQWEH PKTGKRKRVAGDLPYGWEQET
Mouse TKDGWVYYANHTEEKTQWEH PKTGKRKRVAGDLPYGWEQET
Chicken TKDGWVYYANHLEEKTQWEH PKSGKRKRVAGGLPYGWEQET
Zebrafish TKDGWVYYANHEEMKTQWEH PKTGKKKRCAGALPYGWEQET
Drosophila TDDGTVCYVNQQGKTSQWTH PRTGRSKRITGELPLGWEKYY
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 – 414 WW domain-containing oxidoreductase
16 – 49 WW 1
33 – 33 Phosphotyrosine
36 – 36 N -> K. In isoform 4.
37 – 414 Missing. In isoform 4.
28 – 28 K -> T. No effect on interaction with TP53. Abolishes interaction with MAPK8; when associated with V-29.
29 – 29 D -> V. No effect on interaction with TP53. Abolishes interaction with MAPK8; when associated with T-28.
33 – 33 Y -> F. Loss of phosphorylation.
33 – 33 Y -> R. Abolishes interaction with TP53, TP73, MAPK8 and ERBB4. Partial loss of interaction with TFAP2C. Loss of phosphorylation. Loss of the proapoptotic activity.
44 – 47 WEHP -> FEHA. Abolishes interaction with LITAF.
61 – 61 Y -> R. No effect on interaction with TP73.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C.; Lambert L.; Pasquier L.; Bienvenu T.; Delahaye-Duriez A.; Keren B.; Lefranc J.; Saunier A.; Allou L.; Roth V.; Valduga M.; Moustaine A.; Auvin S.; Barrey C.; Chantot-Bastaraud S.; Lebrun N.; Moutard M.L.; Nougues M.C.; Vermersch A.I.; Heron B.; Pipiras E.; Heron D.; Olivier-Faivre L.; Gueant J.L.; Jonveaux P.; Philippe C.;
J. Med. Genet. 52:61-70(2015)
Cited for: INVOLVEMENT IN DEE28; VARIANT DEE28 ARG-47;
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.