Variant position: 223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 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 VLREYLMSGGICPVSRDTID YLLSKNGSGNAIIIVVGGAAE
Mouse VLREYLMSGGICPVNRDTID YLLSKNGSGNAIIIVVGGAAE
Rat VLREYLMSGGICPVNRDTID YLLSKNGSGNAIVIVVGGAAE
Bovine VLREYLMSGGICPVNRDTID YLLSKNGSGNAIIIVVGGAAE
Xenopus laevis VLREYLMSGGICPVNRDTIN YILSKNGTGNAVVIAVGGAAE
Xenopus tropicalis VLREYLMSGGICPVARDTID YILSKNGTGNAVVIAVGGAAE
Zebrafish MFREYLMCGGICPVNRNSID YLLSSNGTGNAVVIVIGGAAE
Slime mold FLRDVLMSFGMSSVSKKSCE NILNSG-AGESICLVVGGAEE
Baker's yeast LYRDYLLALGISSVSRKNAL RTLSKN---QSICIVVGGARE
Fission yeast VYRDYLMALNINSVSKKSCV SILSRK-PGDSVLIVIGGAQE
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 – 388 Diacylglycerol O-acyltransferase 2
113 – 388 Cytoplasmic
DGAT2 mutation in a family with autosomal-dominant early-onset axonal Charcot-Marie-Tooth disease.
Hong Y.B.; Kang J.; Kim J.H.; Lee J.; Kwak G.; Hyun Y.S.; Nam S.H.; Hong H.D.; Choi Y.R.; Jung S.C.; Koo H.; Lee J.E.; Choi B.O.; Chung K.W.;
Hum. Mutat. 37:473-480(2016)
Cited for: VARIANT HIS-223;
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