Variant position: 17 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 691 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 MNAAVVRRTQEALGKV IRRPPLTEKLLSKPPFRYLHD
Mouse MNAAVVRRTQEALGKV IRRPPLTEKLLNKPPFRYLHD
Rat MNAAVVRRTQEALGKV IRRPPLTEKLLNKPPFRYLHD
Zebrafish MNESVAKKTQETLGKV IKKPPLTEKLLSKPPFRYLHD
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 – 691 TRAF3-interacting protein 1
1 – 323 Abolishes microtubules-binding when missing
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Bizet A.A.; Becker-Heck A.; Ryan R.; Weber K.; Filhol E.; Krug P.; Halbritter J.; Delous M.; Lasbennes M.C.; Linghu B.; Oakeley E.J.; Zarhrate M.; Nitschke P.; Garfa-Traore M.; Serluca F.; Yang F.; Bouwmeester T.; Pinson L.; Cassuto E.; Dubot P.; Elshakhs N.A.; Sahel J.A.; Salomon R.; Drummond I.A.; Gubler M.C.; Antignac C.; Chibout S.; Szustakowski J.D.; Hildebrandt F.; Lorentzen E.; Sailer A.W.; Benmerah A.; Saint-Mezard P.; Saunier S.;
Nat. Commun. 6:8666-8666(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN SLSN9; VARIANTS SLSN9 SER-17; ALA-125; MET-125 AND ARG-520; CHARACTERIZATION OF VARIANTS SLSN9 SER-17; ALA-125; MET-125 AND ARG-520;
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.