Sequence information
Variant position: 561 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:
PPYPTDCSIVSFLARLGCSS
C LDYFTTQGLTTIYQIEHYSM
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 PPYPTDCSIVSFLARLGCSSC LDYFTTQGLTTIYQIEHYSM
Mouse PPYPTDCSIVSFLARLGCSSC LDYFTTQGLTTIYQIEHYSM
Rat PPYPTDCSIVSFLARLGCSSC LDYFTTQGLTTIYQIEHYSM
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
Chain
1 – 680
Tumor protein 63
Domain
541 – 607
SAM
Alternative sequence
450 – 680
QTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> HLLSACFRNELVEPRRETPKQSDVFFRHSKPPNRSVYP. In isoform 5 and isoform 6.
Alternative sequence
503 – 680
IPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> RSGKSENP. In isoform 7 and isoform 8.
Alternative sequence
551 – 680
SFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE -> RIWQV. In isoform 3 and isoform 4.
Mutagenesis
543 – 543
Y -> F. Abolishes ubiquitination.
Helix
559 – 561
Literature citations
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;
Disclaimer:
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.