UniProtKB/Swiss-Prot Q15643: Variant p.Met1806Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1806 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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: From Methionine (M) to Valine (V) at position 1806 (M1806V, p.Met1806Val). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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: 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. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1566843321 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1806 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1979 The length of the canonical sequence.
Location on the sequence: NLFIGHFHTPKNQRHEVLRL M GSILGVRREEMEQLFHDDQG 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.
Sequence annotation in neighborhood: 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.

Type	Positions	Description
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;