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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50440: Variant p.Arg189Cys

Glycine amidinotransferase, mitochondrial
Gene: GATM
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Variant information Variant position: help 189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 189 (R189C, p.Arg189Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CCDS3; loss of glycine amidinotransferase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 423 The length of the canonical sequence.
Location on the sequence: help RDILIVVGNEIIEAPMAWRS R FFEYRAYRSIIKDYFHRGAK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAK

Mouse                         RDILMVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAK

Rat                           RDILMVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAK

Pig                           RDILIVVGNEIIEAPMAWRARFFEYRAYRSIIKDYFRRGAK

Bovine                        RDILIVVGNEIIEAPMAWRARFFEYRAYRTIIKDYFRRGAK

Chicken                       RDILLVVGNEIIEAPMAWRARFFEYRAYRRIIKDYFNNGAK

Xenopus laevis                RDILLVVGNEIIEAPMAWRARFFEYRAYRPLIKDYFRRGAK

Xenopus tropicalis            RDILLVVGNEIIEAPMAWRARFFEYRAYRPLIKDYFRRGAK

Zebrafish                     RDILMVVGNEIIEAPMAWRARFFEYRAYRPLIKEYFRRGAR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 44 – 423 Glycine amidinotransferase, mitochondrial
Binding site 170 – 170
Mutagenesis 170 – 170 D -> N. Complete loss of activity.
Helix 187 – 189



Literature citations
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
DesRoches C.L.; Bruun T.; Wang P.; Marshall C.R.; Mercimek-Mahmutoglu S.;
Hum. Mutat. 37:926-932(2016)
Cited for: VARIANTS CCDS3 GLN-23; VAL-93; ASN-102; LEU-105; LYS-181; PRO-185; CYS-189; SER-203; THR-208; HIS-282; VAL-329; LEU-346; TRP-413; GLN-413 AND GLN-415; CHARACTERIZATION OF VARIANTS CCDS3 GLN-23; VAL-93; ASN-102; LEU-105; LYS-181; PRO-185; CYS-189; SER-203; THR-208; HIS-282; VAL-329; LEU-346; TRP-413; GLN-413 AND GLN-415; VARIANTS CYS-231 AND GLY-234; CHARACTERIZATION OF VARIANTS CYS-231 AND GLY-234; FUNCTION; CATALYTIC ACTIVITY;
Disclaimer: 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.