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UniProtKB/Swiss-Prot Q6UX40: Variant p.Glu45Gly

Transmembrane protein 107
Gene: TMEM107
Chromosomal location: 17p13.1
Variant information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Orofaciodigital syndrome 16 (OFD16) [MIM:617563]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive. {ECO:0000269|PubMed:26518474, ECO:0000269|PubMed:26595381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In OFD16; does not affect subcellular location at ciliary transition zone.
Any additional useful information about the variant.



Sequence information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  140
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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.