Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr14 53245118 . C A CCDS9712.1:NM_198066.3:c.466Gaa>Taa_NP_932332.1:p.156E>* Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.
pdb_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 
alphafold_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 

PDB

Entity Residue Monomer BioUnit Ligand View
PDB Entity Uniprot Identity Evalue ExpMethod Date Name Label Auth ASA rASA SS φ ψ ASA rASA ΔASA Interaction Name Distance Atom(p) Atom(l)
2huz 1 Q96EK6 100.0 9e-138 X-RAY
 2006-08-08 GLU A:156 A:156 71.0 0.374 -106.2 140.6 28.0 0.147 0.227 B:Q96EK6:0.226
 HOH
 4.935
 O
 O
GLU B:156 B:156 60.0 0.316 -131.2 133.8 19.0 0.1 0.216 A:Q96EK6:0.216
 HOH
 2.914
 OE1
 O
2o28 1 Q96EK6 100.0 9e-138 X-RAY
 2006-12-12 GLU A:156 A:156 64.0 0.337 -123.0 145.7 21.0 0.111 0.226 B:Q96EK6:0.226
 16G
COA
HOH
 3.276
3.852
2.655
 O
O
OE2
 N2
S1P
O
GLU B:156 B:156 65.0 0.342 -123.1 144.6 21.0 0.111 0.231 A:Q96EK6:0.232
 COA
HOH
 4.173
3.017
 O
N
 S1P
O
3cxq 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 GLU A:156 A:156 67.0 0.353 -122.5 145.1 25.0 0.132 0.221 A:Q96EK6:0.221
 GLP
HOH
 3.273
2.481
 O
OE1
 N2
O
3cxs 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 GLU A:156 A:156 68.0 0.358 -112.7 145.7 21.0 0.111 0.247 A:Q96EK6:0.247
 HOH
 4.791
 O
 O
3cxp 1 Q96EK6 99.46 5e-137 X-RAY
 2008-09-16 ALA A:156 A:156 47.0 0.409 -121.6 144.6 21.0 0.183 0.226 A:Q96EK6:0.226
 HOH
 3.174
 O
 O

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-q96ek6-f1 1 Q96EK6 100.0 4e-138 GLU A:156 A:156 81.0 0.426 -112.6 137.8