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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75175: Variant p.Leu48Val

CCR4-NOT transcription complex subunit 3
Gene: CNOT3
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Variant information Variant position: help 48
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Valine (V) at position 48 (L48V, p.Leu48Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In IDDSADF.


Sequence information Variant position: help 48
Protein sequence length: help 753
Location on the sequence: help IWQKLHNAANANQKEKYEAD L KKEIKKLQRLRDQIKTWVAS
Residue conservation: help 
Human                         IWQKLHNAANANQKEKYEADLKKEIKKLQRLRDQIKTWVAS

Mouse                         IWQKLHNAANANQKEKYEADLKKEIKKLQRLRDQIKTWVAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 753 CCR4-NOT transcription complex subunit 3



Literature citations
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R.; Splitt M.; Genevieve D.; Aten E.; Collins A.; de Bie C.I.; Faivre L.; Foulds N.; Giltay J.; Ibitoye R.; Joss S.; Kennedy J.; Kerr B.; Kivuva E.; Koopmans M.; Newbury-Ecob R.; Jean-Marcais N.; Peeters E.A.J.; Smithson S.; Tomkins S.; Tranmauthem F.; Piton A.; van Haeringen A.;
Eur. J. Hum. Genet. 27:1677-1682(2019)
Cited for: INVOLVEMENT IN IDDSADF; VARIANTS IDDSADF GLN-20; VAL-48; GLU-119; LYS-147; CYS-188; HIS-188; 622-TRP--GLN-753 DEL; 694-GLN--GLN-753 DEL AND GLN-697;
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.