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Q8NFV5 Proteins with novel repeats
Uniprot ID:Q8NFV5
Gene name: SPDYE1 WBSCR19
Protein Family:Speedy/Ringo family
Protein name: Speedy protein E1
Length : 336
Sequnce
>Q8NFV5 337 MQKHYTVAWFLYSAPGVDPSPPCRSLGWKRKREWSDESEEEPEKELAPEPEETWVVETLCGLKMKLKQQRVSPILLEHHKDFNSQLAPGVDPSPPHRSFCWKRKMEWWDKSEESEEEPRKVLAPEPEEIWVAEMLCGLKMKLKRRRVSLVLPEHHEAFNRLLEDPVIKRFLAWDKDLRVSDKYLLAMVIAYFSRAGFPSWQYQRLHFFLALYLANDMEEDDEDSKQNIFHFLYGKNRSRIPLLRKRRFQLYRSMNPRARKNRSHIPLVRKRRFQLRRCMNPRARKNRSQIVLFQKRRFHFFCSMSCRAWVSPEELEEIQAYDPEHWVWARDRARLS
Repeated Sequence regions
Length: 25 residues : 3 times from 235 to 309 :0.8 region Length:75 KNRSRIPLLRKRRFQLYRSMNPRAR KNRSHIPLVRKRRFQLRRCMNPRAR KNRSQIVLFQKRRFHFFCSMSCRAW
Disease
"DISEASE: Note=SPDYE1 is located in the Williams-Beuren syndrome (WBS) critical region WBS results from a hemizygous deletion of several genes on chromosome 7q11 23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:12073013)"