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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H3D4: Variant p.Cys561Gly

Tumor protein 63
Gene: TP63
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Variant information Variant position: help 561 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Glycine (G) at position 561 (C561G, p.Cys561Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In AEC. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 561 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 680 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSM

Mouse                         PPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSM

Rat                           PPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSM
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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.