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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50440: Variant p.Arg413Gln

Glycine amidinotransferase, mitochondrial
Gene: GATM
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Variant information Variant position: help 413 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 Glutamine (Q) at position 413 (R413Q, p.Arg413Gln). 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 (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 413 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 VNIRNANSLGGGFHCWTCDV R RRGTLQSYLD 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                         VNIRNANSLGGGFHCWTCDVRRRGTLQSYLD

Mouse                         VNIRNANSLGGGFHCWTCDVRRRGTLQSYFD

Rat                           VNIRNANSLGGGFHCWTCDVRRRGTLQSYFD

Pig                           ISIRNANSLGGGFHCWTCDVRRRGTLQSYFD

Bovine                        VSIRNANSLGGGFHCWTCDVRRRGTLQSYFD

Chicken                       VNIRHANSLGGGFHCWTCDIRRRGTLQSYFD

Xenopus laevis                VNIRHANSLGGGFHCWTCDIRRRGTLQSYFR

Xenopus tropicalis            VNIRHANSLGGGFHCWTCDIRRRGTLQSYFS

Zebrafish                     VSIRHANSLGGGFHCWTTDVRRRGTLQSYFL
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
Active site 407 – 407 Amidino-cysteine intermediate
Alternative sequence 388 – 423 ITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD -> MYNK. In isoform 3.
Mutagenesis 407 – 407 C -> S. Complete loss of activity; when associated with K-233.
Mutagenesis 410 – 410 C -> A. No effect on activity.
Beta strand 409 – 415



Literature citations
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Comeaux M.S.; Wang J.; Wang G.; Kleppe S.; Zhang V.W.; Schmitt E.S.; Craigen W.J.; Renaud D.; Sun Q.; Wong L.J.;
Mol. Genet. Metab. 109:260-268(2013)
Cited for: VARIANTS CCDS3 GLN-413 AND TRP-413; 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.