PDB ID 1D2H CHAIN B
Protein name GLYCINE N-METHYLTRANSFERASE
Uniprot Accession P13255
The number of similar proteins 50
The number of binding states 3
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
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partners
  1
  0
Sequence information
1   VDSVYRTRSL   GVAAEGIPDQ   YADGEAARVW   QLYIGDTRSR   TAEYKAWLLG   50
51   LLRQHGCHRV   LDVACGTGVD   SIMLVEEGFS   VTSVDASDKM   LKYALKERWN   100
101   RRKEPAFDKW   VIEEANWLTL   DKDVPAGDGF   DAVICLGNSF   AHLPDSKGDQ   150
151   SEHRLALKNI   ASMVRPGGLL   VIDHKNYDYI   LSTGCAPPGK   NIYYKSDLTK   200
201   DITTSVLTVN   NKAHMVTLDY   TVQVPGAGRD   GAPGFSKFRL   SYYPHCLASF   250
251   TELVQEAFGG   RCQHSVLGDF   KPYRPGQAYV   PCYFIHVLKK   TG   300
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
49_LEU PRO ClinVar
chr6:42928654
rs121907888 Pathogenic Glycine N-methyltransferase deficiency [MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891]
138_ASN SER ClinVar
chr6:42930587
rs864321678 Pathogenic Glycine N-methyltransferase deficiency [MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891]
174_HIS ASN ClinVar
chr6:42930887
rs121907889 Pathogenic Glycine N-methyltransferase deficiency [MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891]