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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14353: Variant p.Phe157Leu

Guanidinoacetate N-methyltransferase
Gene: GAMT
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Variant information Variant position: help 157
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Leucine (L) at position 157 (F157L, p.Phe157Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help No effect on enzymatic activity.
Other resources: help


Sequence information Variant position: help 157
Protein sequence length: help 236
Location on the sequence: help YPLSEETWHTHQFNFIKNHA F RLLKPGGVLTYCNLTSWGEL
Residue conservation: help 
Human                         YPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGEL

Mouse                         YPLSEEAWHTHQFNFIKNHAFRLLKTGGVLTYCNLTSWGEL

Rat                           YPLSEETWHTHQFNFIKTHAFRLLKPGGILTYCNLTSWGEL

Bovine                        YPLSEETWHTHQFNFIRDHAFRLLKPGGVLTYCNLTSWGEL

Xenopus tropicalis            YPLSEETWHTHQFNFIKGHAYRLLKPGGVLTYCNLTSWGEL

Zebrafish                     YPLSEETWHTHQFNFIKAHAHRMLKPGGVLTYCNLTSWGEL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 236 Guanidinoacetate N-methyltransferase
Domain 13 – 236 RMT2
Helix 156 – 159



Literature citations
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Desroches C.L.; Patel J.; Wang P.; Minassian B.; Marshall C.R.; Salomons G.S.; Mercimek-Mahmutoglu S.;
Mol. Genet. Genomics 290:2163-2171(2015)
Cited for: VARIANTS VAL-71; MET-78; ILE-95; GLN-105; ARG-146; ASP-156; LEU-157 AND ILE-167; VARIANT CCDS2 PRO-106; CHARACTERIZATION OF VARIANTS VAL-71; MET-78; ILE-95; GLN-105; PRO-106; ARG-146; ASP-156; LEU-157 AND ILE-167; 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.