Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524 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 GGGSGGLACAKEAAQLGRKV AVVDYVEPSPQGTRWGLGGTC
Mouse GGGSGGLACAKEAAQLGKKV AVADYVEPSPRGTKWGLGGTC
Rat GGGSGGLACAKEAAQLGRKV AVADYVEPSPRGTKWGLGGTC
Bovine GGGSGGLACAKEAAQLGKKV AVLDYVEPSPQGTRWGLGGTC
Caenorhabditis elegans GAGSGGLSCSKRAADLGANV ALIDAVEPTPHGHSWGIGGTC
Drosophila GGGSAGLACAKEAAGCGARV LCFDYVKPTPVGTKWGIGGTC
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
37 – 524 Thioredoxin reductase 2, mitochondrial
41 – 70 FAD
1 – 247 Missing. In isoform 4.
1 – 96 Missing. In isoform 3.
Cloning, sequencing and functional expression of a novel human thioredoxin reductase.
Gasdaska P.Y.; Berggren M.M.; Berry M.J.; Powis G.;
FEBS Lett. 442:105-111(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT SER-66;
Kim J.-R.; Lee Y.H.; Lee S.-R.; Kim B.H.; Rhee S.G.; Kim J.H.;
Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1); VARIANTS SER-66 AND THR-370;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 40-524; VARIANT SER-66;
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad R.; Chan L.F.; Hughes C.R.; Kaski J.P.; Kowalczyk J.C.; Savage M.O.; Peters C.J.; Nathwani N.; Clark A.J.; Storr H.L.; Metherell L.A.;
J. Clin. Endocrinol. Metab. 99:E1556-E1563(2014)
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN GCCD5; VARIANT GCCD5 447-TYR--GLY-524 DEL; CHARACTERIZATION OF VARIANT GCCD5 447-TYR--GLY-524 DEL; VARIANTS SER-66; ARG-299 AND THR-370;
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.