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:
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 LFWSRDSNIQACLPLTFTPE EYDKQDIQLVAALSVTLGLFA
Mouse LFWSRESNIQACLPLKFTPE EYEKQDNQLVAALCLTLGLFA
Rat LFWSRESNIQACLPLKFTPE EYEKQDNQLVAALCLTLGLFA
Xenopus laevis IFWSRENNVLACLPINFTPQ QFSSRDTELIIALSVTLGLFA
Zebrafish IFWSRDNNIQSCLPLEFTED QYRTEDTRLTVALSVTLALFV
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
1 – 140 Transmembrane protein 107
30 – 30 D -> VRPTAALNPSPFPSLSGPSPTLPPPSVLPSWVFLFPAAPRPALQPAPFSLLSAGWWPRSLSPWASLQWSWPVSSQESPCSTAPRASSVSFLPAHLSHTTHFYQDSLQPPDTIVSAVANPSSSKIFNDVLNPAVY. In isoform 2.
31 – 140 Missing. In isoform 2.
52 – 52 Q -> HPLPLCR. In isoform 3 and isoform 4.
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;
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.