Variant position: 372 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 MQQGAATTVYCAAVPELEGL GGMYFNNCCRCMPSPEAQSEE
Mouse MQQGAATTVYCAVAPELEGL GGMYFNNCCRCLPSEEAQSEE
Chicken MQQGAATTVYCATAAELEGL GGMYFNNCCRCLPSAEARNEL
Zebrafish MQQGAATTVYCAVAPELEGI GGMYFNNCFRCLPSPQAQDPA
Drosophila LQQAAATSIYCATANELTGL SGLYFNNCFFCEPSKLSKSAA
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
125 – 414 Interaction with MAPT
37 – 414 Missing. In isoform 4.
137 – 414 GFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG -> ATGSCHHRVLCCCPRTGGSGRDVLQQLLPLHALTRSSERRDGPDPVGAQREADPRTAWQPVRLSGAQSGWAHTPALCVSPHASARAGPLPNVPPTQIRKSKGNKSSHNRVKNLKYQWEAGNSWGKVSLFWGWARHRSLCFLVVACLKVKTCLVCRFRISLEKHQQFSFFYCYRIA. In isoform 6.
190 – 414 Missing. In isoform 3.
214 – 414 Missing. In isoform 7.
364 – 414 Missing. In isoform 2.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M.; Synofzik M.; Lee J.; Sagum C.A.; Mahajnah M.; Sharkia R.; Drouot N.; Renaud M.; Klein F.A.; Anheim M.; Tranchant C.; Mignot C.; Mandel J.L.; Bedford M.; Bauer P.; Salih M.A.; Schuele R.; Schoels L.; Aldaz C.M.; Koenig M.;
Cited for: VARIANTS SCAR12 THR-47 AND ARG-372;
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