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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot A5YKK6: Variant p.Thr1038Ile

CCR4-NOT transcription complex subunit 1
Gene: CNOT1
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Variant information Variant position: help 1038 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Threonine (T) to Isoleucine (I) at position 1038 (T1038I, p.Thr1038Ile). 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 (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 VIBOS; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 1038 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2376 The length of the canonical sequence.
Location on the sequence: help AQAQAQAQVPAKAPLAGQVS T MVTTSTTTTVAKTVTVTRPT 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                         AQAQAQAQVPAKAPLAGQVSTMVTT-STTTTVAKTVTVTRPT

Mouse                         AQAQAQAQVPAKAPLAGQVNTMVTT-STTTTVAKTVTVTKP

Xenopus tropicalis            SQAQTPAK-PAS-------SSAVTT-PTTTTPAKTITITRP

Zebrafish                     AQAQAQSQ-PPKAPQPGQASTLVTTATTTTTAAKTTTITRP

Caenorhabditis elegans        AQAGSASSTP----------------TPAAAPTNWGAVARA

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 – 2376 CCR4-NOT transcription complex subunit 1



Literature citations
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers L.E.L.M.; Kalvakuri S.; de Boer E.; Geuer S.; Oud M.; van Outersterp I.; Kwint M.; Witmond M.; Kersten S.; Polla D.L.; Weijers D.; Begtrup A.; McWalter K.; Ruiz A.; Gabau E.; Morton J.E.V.; Griffith C.; Weiss K.; Gamble C.; Bartley J.; Vernon H.J.; Brunet K.; Ruivenkamp C.; Kant S.G.; Kruszka P.; Larson A.; Afenjar A.; Billette de Villemeur T.; Nugent K.; Raymond F.L.; Venselaar H.; Demurger F.; Soler-Alfonso C.; Li D.; Bhoj E.; Hayes I.; Hamilton N.P.; Ahmad A.; Fisher R.; van den Born M.; Willems M.; Sorlin A.; Delanne J.; Moutton S.; Christophe P.; Mau-Them F.T.; Vitobello A.; Goel H.; Massingham L.; Phornphutkul C.; Schwab J.; Keren B.; Charles P.; Vreeburg M.; De Simone L.; Hoganson G.; Iascone M.; Milani D.; Evenepoel L.; Revencu N.; Ward D.I.; Burns K.; Krantz I.; Raible S.E.; Murrell J.R.; Wood K.; Cho M.T.; van Bokhoven H.; Muenke M.; Kleefstra T.; Bodmer R.; de Brouwer A.P.M.;
Am. J. Hum. Genet. 107:164-172(2020)
Cited for: VARIANTS VIBOS 26-ARG--SER-2376 DEL; 33-GLN--SER-2376 DEL; 396-TYR--SER-2376 DEL; GLU-642; LYS-897; CYS-900; ILE-1038; LEU-1089; PRO-1148; GLY-1188; ARG-1241; ALA-1419; SER-1428; CYS-1478; HIS-1494; ASP-1572 AND SER-2216; INVOLVEMENT IN VIBOS;
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.