Sequence information
Variant position: 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 620 The length of the canonical sequence.
Location on the sequence:
FVGLGNVWRFPYLCYKNGGG
A FLIPYFIFLFGSGLPVFFLE
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 FVGLGNVWRFPYLCYKNGGGA FLIPYFIFLFGSGLPVFFLE
FVGLGNVWRFPYLCYKNGGGA FLIPYFIFLFGGGLPVFFLE
Mouse FVGLGNVWRFPYLCYKNGGGA FLIPYFIFLFGSGLPVFFLE
Rat FVGLGNVWRFPYLCYKNGGGA FLIPYFIFLFGSGLPVFFLE
Bovine FVGLGNVWRFPYLCYKNGGGA FLIPYFIFLFGGGLPVFFLE
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
Chain
1 – 620
Sodium- and chloride-dependent taurine transporter
Transmembrane
78 – 97
Helical; Name=2
Literature citations
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising M.N.; Goerg B.; Friedburg C.; Qvartskhava N.; Budde B.S.; Bonus M.; Toliat M.R.; Pfleger C.; Altmueller J.; Herebian D.; Beyer M.; Zoellner H.J.; Wittsack H.J.; Schaper J.; Klee D.; Zechner U.; Nuernberg P.; Schipper J.; Schnitzler A.; Gohlke H.; Lorenz B.; Haeussinger D.; Bolz H.J.;
FASEB J. 33:11507-11527(2019)
Cited for: INVOLVEMENT IN HTRDC; FUNCTION; VARIANT HTRDC GLU-78; CHARACTERIZATION OF VARIANT HTRDC GLU-78; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION;
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.