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UniProtKB/Swiss-Prot Q14353: Variant p.His51Pro

Guanidinoacetate N-methyltransferase
Gene: GAMT
Variant information

Variant position:  51
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Histidine (H) to Proline (P) at position 51 (H51P, p.His51Pro).
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:  Change from medium size and polar (H) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In CCDS2; retains no significant activity.
Any additional useful information about the variant.



Sequence information

Variant position:  51
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:   DTHLRILGKPVMERWETPYM  H ALAAAASSKGGRVLEVGFGM
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                         DTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGM

Mouse                         DTHLQILGKPVMERWETPYMHALAAAAASRGGRVLEVGFGM

Rat                           DTHLQILGKPVMERWETPYMHSLAAAAASRGGRVLEVGFGM

Bovine                        DTHLQILGKPVMERWETPYMHALAAAAASRGGRVLEVGFGM

Xenopus tropicalis            DTHLEILGKPVMERWETPYMHSLASVAASKGGRVLEIGFGM

Zebrafish                     DTHLEIMGKPVMERWETPYMHSLATVAASKGGRVLEIGFGM

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.

TypePositionsDescription
Chain 2 – 236 Guanidinoacetate N-methyltransferase
Domain 13 – 236 RMT2
Binding site 42 – 42 Guanidinoacetate
Binding site 46 – 46 Guanidinoacetate
Binding site 50 – 50 S-adenosyl-L-methionine
Helix 47 – 57


Literature citations

Characterization of seven novel mutations in seven patients with GAMT deficiency.
Item C.B.; Mercimek-Mahmutoglu S.; Battini R.; Edlinger-Horvat C.; Stromberger C.; Bodamer O.; Muehl A.; Vilaseca M.A.; Korall H.; Stoeckler-Ipsiroglu S.;
Hum. Mutat. 23:524-524(2004)
Cited for: VARIANTS CCDS2 SER-20; PRO-51 AND PRO-54;

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Mercimek-Mahmutoglu S.; Stoeckler-Ipsiroglu S.; Adami A.; Appleton R.; Araujo H.C.; Duran M.; Ensenauer R.; Fernandez-Alvarez E.; Garcia P.; Grolik C.; Item C.B.; Leuzzi V.; Marquardt I.; Muehl A.; Saelke-Kellermann R.A.; Salomons G.S.; Schulze A.; Surtees R.; van der Knaap M.S.; Vasconcelos R.; Verhoeven N.M.; Vilarinho L.; Wilichowski E.; Jakobs C.;
Neurology 67:480-484(2006)
Cited for: VARIANT CCDS2 PRO-51;

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Mercimek-Mahmutoglu S.; Ndika J.; Kanhai W.; de Villemeur T.B.; Cheillan D.; Christensen E.; Dorison N.; Hannig V.; Hendriks Y.; Hofstede F.C.; Lion-Francois L.; Lund A.M.; Mundy H.; Pitelet G.; Raspall-Chaure M.; Scott-Schwoerer J.A.; Szakszon K.; Valayannopoulos V.; Williams M.; Salomons G.S.;
Hum. Mutat. 35:462-469(2014)
Cited for: VARIANTS CCDS2 CYS-68; VAL-75; PHE-110; TYR-147; PRO-159 AND PRO-208; VARIANTS THR-8 AND HIS-27; CHARACTERIZATION OF VARIANTS CCDS2 ARG-45; LEU-50; PRO-51; PRO-54; CYS-68; VAL-75; PHE-110; TYR-147; PRO-159; PRO-166; TYR-169; PRO-197 AND PRO-208; CHARACTERIZATION OF VARIANTS THR-8 AND HIS-27; FUNCTION;

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.