Variant position: 553 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 680 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 STSHCTPPPPYPTDCSIVSF LARLGCSSCLDYFTTQGLTTI
Mouse STSHCTPPPPYPTDCSIVSF LARLGCSSCLDYFTTQGLTTI
Rat STSHCTPPPPYPTDCSIVSF LARLGCSSCLDYFTTQGLTTI
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 – 680 Tumor protein 63
541 – 607 SAM
450 – 680 QTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> HLLSACFRNELVEPRRETPKQSDVFFRHSKPPNRSVYP. In isoform 5 and isoform 6.
503 – 680 IPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> RSGKSENP. In isoform 7 and isoform 8.
551 – 680 SFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> RIWQV. In isoform 3 and isoform 4.
543 – 543 Y -> F. Abolishes ubiquitination.
549 – 554
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath J.A.; Duijf P.H.G.; Doetsch V.; Irvine A.D.; de Waal R.; Vanmolkot K.R.; Wessagowit V.; Kelly A.; Atherton D.J.; Griffiths W.A.; Orlow S.J.; van Haeringen A.; Ausems M.G.; Yang A.; McKeon F.; Bamshad M.A.; Brunner H.G.; Hamel B.C.J.; van Bokhoven H.;
Hum. Mol. Genet. 10:221-229(2001)
Cited for: VARIANTS AEC PHE-553 AND GLY-561;
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.