PDB ID | 1D2H | CHAIN | A |
---|---|---|---|
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 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
41_THR | PRO |
8.3kJPN chr6:42928629 |
-
|
- | 0.0019 | - | |
49_LEU | PRO |
ClinVar chr6:42928654 |
rs121907888
|
Pathogenic | - | Glycine N-methyltransferase deficiency [MONDO:MONDO:0011698,MedGen:C1847720,OMIM:606664,Orphanet:289891] | |
81_VAL | MET |
8.3kJPN chr6:42929987 |
-
|
- | 0.0001 | - | |
96_LYS | GLU |
8.3kJPN chr6:42930032 |
-
|
- | 0.0001 | - | |
100_ASN | ASP |
gnomAD chr6:42930044 |
rs746552607
|
- | 0.000111362 | - | |
102_ARG | TRP |
8.3kJPN chr6:42930050 |
rs749599022
|
- | 0.0001 | - | |
102_ARG | GLN |
8.3kJPN chr6:42930051 |
rs781167464
|
- | 0.0002 | - | |
106_ALA | THR |
gnomAD chr6:42930062 |
rs535188125
|
- | 0.00144861 | - | |
109_LYS | ASN |
8.3kJPN chr6:42930073 |
rs759573326
|
- | 0.0001 | - | |
123_ASP | GLY |
8.3kJPN chr6:42930536 |
-
|
- | 0.0001 | - | |
124_VAL | MET |
gnomAD chr6:42930538 |
rs143043221
|
- | 0.000373766 | - | |
138_ASN | SER |
ClinVar chr6:42930587 |
rs864321678
|
Pathogenic | - | Glycine N-methyltransferase deficiency [MONDO:MONDO:0011698,MedGen:C1847720,OMIM:606664,Orphanet:289891] | |
148_GLY | VAL |
8.3kJPN chr6:42930810 |
rs1463626619
|
- | 0.0001 | - | |
153_HIS | PRO |
gnomAD chr6:42930825 |
rs138085632
|
- | 0.000136054 | - | |
154_ARG | TRP |
gnomAD chr6:42930827 |
rs142613217
|
- | 0.000220159 | - | |
154_ARG | GLN |
gnomAD chr6:42930828 |
rs563826316
|
- | 0.000128069 | - | |
154_ARG | GLN |
8.3kJPN chr6:42930828 |
rs563826316
|
- | 0.0001 | - | |
174_HIS | ASN |
gnomAD chr6:42930887 |
rs121907889
|
- | 0.000406822 | - | |
174_HIS | ARG |
8.3kJPN chr6:42930888 |
rs201256313
|
- | 0.0001 | - | |
179_HIS | PRO |
8.3kJPN chr6:42930903 |
rs200543916
|
- | 0.0001 | - | |
209_VAL | GLY |
8.3kJPN chr6:42931106 |
-
|
- | 0.0001 | - | |
223_GLN | ARG |
8.3kJPN chr6:42931148 |
-
|
- | 0.0001 | - | |
225_PRO | LEU |
8.3kJPN chr6:42931154 |
rs764303705
|
- | 0.0008 | - | |
228_GLY | ARG |
8.3kJPN chr6:42931162 |
-
|
- | 0.0001 | - | |
234_GLY | SER |
8.3kJPN chr6:42931180 |
rs755716132
|
- | 0.0001 | - | |
239_ARG | TRP |
8.3kJPN chr6:42931280 |
rs946974235
|
- | 0.0001 | - | |
258_PHE | LEU |
gnomAD chr6:42931339 |
rs201991849
|
- | 0.000107377 | - |