Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 236 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 ELMKSKYSDITIMFEETQVP ALLEAGFRRENIRTEVMALVP
Mouse ELMKSKYTDITTMFEETQVP ALQEAGFLKENICTEVMALVP
Rat ELMKSKYTDITAMFEETQVP ALLEAGFQRENICTEVMALVP
Bovine ELMKTKYSDITTMFEETQVP ALLEAGFRRDNIRTQVMELVP
Xenopus tropicalis ELLKAKYNDIEKMFQETQIP QLVDAGFKSENISTTVMDLIP
Zebrafish ELLKNKYDNIDKMFQETQVP HLLEAGFKKEKISTTLMDISP
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 – 236 Guanidinoacetate N-methyltransferase
13 – 236 RMT2
191 – 236 ETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG -> VRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIKVLCLAQWLPGAVAQVYNPSTVEGRGGQIA. In isoform 2.
194 – 200
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Mercimek-Mahmutoglu S.; Pop A.; Kanhai W.; Fernandez Ojeda M.; Holwerda U.; Smith D.; Loeber J.G.; Schielen P.C.; Salomons G.S.;
Cited for: VARIANTS LEU-44; LEU-76; THR-196; VAL-196 AND THR-224; CHARACTERIZATION OF VARIANTS LEU-44; LEU-76; THR-196; VAL-196 AND THR-224; FUNCTION;
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.