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UniProtKB/Swiss-Prot Q9H892: Variant p.Met567Arg

Tetratricopeptide repeat protein 12
Gene: TTC12
Variant information

Variant position:  567
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Arginine (R) at position 567 (M567R, p.Met567Arg).
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:  Change from medium size and hydrophobic (M) to large size and basic (R)
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 CILD45; reduced protein abundance; changed axonemal dynein complex assembly; loss of sperm axoneme assembly.
Any additional useful information about the variant.

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



Sequence information

Variant position:  567
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  705
The length of the canonical sequence.

Location on the sequence:   TLSSSLKIVEEALRAGVVKK  M MKFLKTGGETASRYAIKILA
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         TLSSSLKIVEEALRAGVVKKMMKFLKTGGETASRYAIKILA

Mouse                         TLSSSQTIVEEALTAGVVKKMIKFLRMGGQTASRYAIKILA

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.

TypePositionsDescription
Chain 1 – 705 Tetratricopeptide repeat protein 12


Literature citations

TTC12 Loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella.
Thomas L.; Bouhouche K.; Whitfield M.; Thouvenin G.; Coste A.; Louis B.; Szymanski C.; Bequignon E.; Papon J.F.; Castelli M.; Lemullois M.; Dhalluin X.; Drouin-Garraud V.; Montantin G.; Tissier S.; Duquesnoy P.; Copin B.; Dastot F.; Couvet S.; Barbotin A.L.; Faucon C.; Honore I.; Maitre B.; Beydon N.; Tamalet A.; Rives N.; Koll F.; Escudier E.; Tassin A.M.; Toure A.; Mitchell V.; Amselem S.; Legendre M.;
Am. J. Hum. Genet. 106:153-169(2020)
Cited for: INVOLVEMENT IN CILD45; VARIANTS CILD45 203-ILE--SER-705 DEL; 560-ARG--SER-705 DEL AND ARG-567; CHARACTERIZATION OF VARIANTS CILD45 203-ILE--SER-705 DEL; 560-ARG--SER-705 DEL AND ARG-567; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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.