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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15643: Variant p.Met1806Val

Thyroid receptor-interacting protein 11
Gene: TRIP11
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Variant information Variant position: help 1806
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Valine (V) at position 1806 (M1806V, p.Met1806Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In ODCD1; due to a nucleotide substitution that causes missplicing of exon 18 or results in missense variant V-1806; patient cells contain both type of transcripts; the transcript with the missense variant is the most abundant.
Other resources: help


Sequence information Variant position: help 1806
Protein sequence length: help 1979
Location on the sequence: help NLFIGHFHTPKNQRHEVLRL M GSILGVRREEMEQLFHDDQG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 1979 Thyroid receptor-interacting protein 11
Domain 1774 – 1823 GRIP



Literature citations
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A.; Witkos T.M.; Unger S.; Schneider J.; Follit J.A.; Hermann J.; Welting T.; Fano V.; Hietala M.; Vatanavicharn N.; Schoner K.; Spranger J.; Schmidts M.; Zabel B.; Pazour G.J.; Bloch-Zupan A.; Nishimura G.; Superti-Furga A.; Lowe M.; Lausch E.;
JCI Insight 4:0-0(2019)
Cited for: FUNCTION; ALTERNATIVE SPLICING (ISOFORM 2); TISSUE SPECIFICITY; INVOLVEMENT IN ODCD1; VARIANTS ACG1A 264-ARG--GLN-1979 DEL; 1160-GLN--GLN-1979 DEL; 1167-ARG--GLN-1979 DEL; 1224-TRP--GLN-1979 DEL; 1321-LEU--GLN-1979 DEL AND 1376-SER--GLN-1979 DEL; CHARACTERIZATION OF VARIANT ACG1A 1224-TRP--GLN-1979 DEL; VARIANTS ODCD1 105-VAL--GLN-196 DEL; 196-GLN--GLN-1979 DEL; 264-ARG--GLN-1979 DEL; TYR-410; 1512-GLN--GLN-1979 DEL AND VAL-1806;
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.