Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6UX40: Variant p.Glu45Gly

Transmembrane protein 107
Gene: TMEM107
Feedback?
Variant information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Glycine (G) at position 45 (E45G, p.Glu45Gly). 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 acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 OFD16; does not affect subcellular location at ciliary transition zone. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 140 The length of the canonical sequence.
Location on the sequence: help LFWSRDSNIQACLPLTFTPE E YDKQDIQLVAALSVTLGLFA 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                         LFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVTLGLFA

Mouse                         LFWSRESNIQACLPLKFTPEEYEKQDNQLVAALCLTLGLFA

Rat                           LFWSRESNIQACLPLKFTPEEYEKQDNQLVAALCLTLGLFA

Xenopus laevis                IFWSRENNVLACLPINFTPQQFSSRDTELIIALSVTLGLFA

Zebrafish                     IFWSRDNNIQSCLPLEFTEDQYRTEDTRLTVALSVTLALFV
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 – 140 Transmembrane protein 107
Alternative sequence 30 – 30 D -> VRPTAALNPSPFPSLSGPSPTLPPPSVLPSWVFLFPAAPRPALQPAPFSLLSAGWWPRSLSPWASLQWSWPVSSQESPCSTAPRASSVSFLPAHLSHTTHFYQDSLQPPDTIVSAVANPSSSKIFNDVLNPAVY. In isoform 2.
Alternative sequence 31 – 140 Missing. In isoform 2.
Alternative sequence 52 – 52 Q -> HPLPLCR. In isoform 3 and isoform 4.



Literature citations
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Lambacher N.J.; Bruel A.L.; van Dam T.J.; Szymanska K.; Slaats G.G.; Kuhns S.; McManus G.J.; Kennedy J.E.; Gaff K.; Wu K.M.; van der Lee R.; Burglen L.; Doummar D.; Riviere J.B.; Faivre L.; Attie-Bitach T.; Saunier S.; Curd A.; Peckham M.; Giles R.H.; Johnson C.A.; Huynen M.A.; Thauvin-Robinet C.; Blacque O.E.;
Nat. Cell Biol. 18:122-131(2016)
Cited for: SUBCELLULAR LOCATION; INVOLVEMENT IN OFD16; VARIANTS OFD16 GLY-45 AND GLU-106 DEL; CHARACTERIZATION OF VARIANT OFD16 GLY-45; VARIANT MKS13 PHE-100 DEL; INTERACTION WITH TMEM237; TMEM231; MKS1 AND TMEM216; IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX;
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.