Variant position: 112 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 617 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 VAHEK-DIRVCLVEKAAQIGA HTLSGACLDPGAFKELFPDWK
Mouse AEQGK-DIRVCLVEKAAQIGA HTLSGACLDPAAFKELFPDW
Rat AEQEK-DIRVCLVEKAAQIGA HTLSGACLDPAAFKELFPDW
Pig AQHEK-DLRVCLVEKAAHIGA HTLSGACLDPRAFEELFPDW
Bovine AQHEK-DIRVCLVEKAAQIGA HTLSGACLDPRALQELFPDW
Caenorhabditis elegans EKAQK-ELRVCVVEKASVIGG HTLSGAVIETRALDELIPNW
Slime mold EKAGK-DLRVCVVEKGSEVGS HILSGAVMDPKALNELIPDW
Baker's yeast NSSGTGQLRVVVLEKSSVLGG QTVSGAILEPGVWKELFPDE
Fission yeast AKANR-DIRVVVLEKAAEPGN HSVSGAVIQPTALDELLPNW
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
34 – 617 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
109 – 130
96 – 96 N6-acetyllysine
132 – 132 N6-acetyllysine
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Beresford M.W.; Pourfarzam M.; Turnbull D.M.; Davidson J.E.;
Neuromuscul. Disord. 16:269-273(2006)
Cited for: VARIANTS GA2C TYR-112 AND THR-456;
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.