Variant position: 360 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 539 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 VHLMKYVEEEFSEIKETWVL LVCIGATSGLGRLVSGHISDS
Mouse VHLMKYVEDKFKEIKETWVL LVCIGATSGLGRLVSGHISDS
Rat VHLMKYVEDKFKEIKETWVL LVCIGATSGLGRLVSGHISDS
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
2 – 539 Monocarboxylate transporter 8
357 – 377 Helical
376 – 376 H -> A. No effect on thyroid hormone (TH) transport.
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Schwartz C.E.; May M.M.; Carpenter N.J.; Rogers R.C.; Martin J.; Bialer M.G.; Ward J.; Sanabria J.; Marsa S.; Lewis J.A.; Echeverri R.; Lubs H.A.; Voeller K.; Simensen R.J.; Stevenson R.E.;
Am. J. Hum. Genet. 77:41-53(2005)
Cited for: VARIANTS MCT8 DEFICIENCY PHE-120; PHE-156 DEL; MET-161; TRP-360 AND PRO-494;
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
Fischer J.; Kleinau G.; Mueller A.; Kuehnen P.; Zwanziger D.; Kinne A.; Rehders M.; Moeller L.C.; Fuehrer D.; Grueters A.; Krude H.; Brix K.; Biebermann H.;
J. Mol. Endocrinol. 54:39-50(2015)
Cited for: VARIANTS MCT8 DEFICIENCY THR-150; HIS-197; CYS-371 AND ASP-484; CHARACTERIZATION OF VARIANTS MCT8 DEFICIENCY PHE-120; THR-150; VAL-150; PHE-156 DEL; MET-161; HIS-197; TRP-360; CYS-371 PRO-397; PRO-438; ASP-484 AND PRO-494; SUBUNIT; SUBCELLULAR LOCATION;
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.