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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60563: Variant p.Arg541Cys

Cyclin-T1
Gene: CCNT1
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Variant information Variant position: help 541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Arginine (R) to Cysteine (C) at position 541 (R541C, p.Arg541Cys). 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 large size and basic (R) to medium size and polar (C) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 726 The length of the canonical sequence.
Location on the sequence: help HNHHSHKHSHSQLPVGTGNK R PGDPKHSSQTSNLAHKTYSL 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                         HNHHSHKHSHSQLPVGTGNKRPGDPKHSSQTSNLAHKTYSL

Chimpanzee                    HNHHSHKHSHSQLPVGTGNKRPGDPKHSSQTSNLAHKTYSL

Mouse                         HNHHSHRHSHLQLPAGPVSKRPSDPKHSSQTSTLAHKTYSL

Bovine                        HNHHSHKHSHSQLPAGTGNKRLGDPKHSSQTSTLAHKPYSL

Horse                         HNHHSHKHSHSQLPAGTGNKRPGDPKHSSQTSTLAHKTYSL

Caenorhabditis elegans        --------------------RMAGKLDSSTSSEKRARIDPL

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 – 726 Cyclin-T1
Region 480 – 550 Histidine-rich domain (HRD)
Region 487 – 650 Disordered
Region 527 – 570 Required for interaction with ZMYND8
Modified residue 530 – 530 ADP-ribosylhistidine
Modified residue 531 – 531 ADP-ribosylserine
Modified residue 549 – 549 ADP-ribosylserine
Modified residue 552 – 552 ADP-ribosylserine
Modified residue 556 – 556 ADP-ribosylhistidine
Alternative sequence 185 – 726 Missing. In isoform 2.



Literature citations
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT CYS-541;
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.