Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr14 53245082 . A C CCDS9712.1:NM_198066.3:c.502Ttt>Gtt_NP_932332.1:p.168F>V 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: 
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label_comp_id: 
auth_asym_id: 
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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 PHE A:168 A:168 10.0 0.048 T -102.5 3.6 0.0 0.0 0.048 B:Q96EK6:0.048
 HOH
 8.508
 O
 O
PHE B:168 B:168 13.0 0.062 T -110.9 19.8 2.0 0.01 0.052 A:Q96EK6:0.052
 HOH
 3.714
 CA
 O
2o28 1 Q96EK6 100.0 9e-138 X-RAY
 2006-12-12 PHE A:168 A:168 11.0 0.052 T -103.3 12.3 2.0 0.01 0.042 B:Q96EK6:0.043
 16G
COA
HOH
 9.439
6.612
3.824
 CE2
CZ
CD1
 C8
O2A
O
PHE B:168 B:168 17.0 0.081 G -110.5 14.5 2.0 0.01 0.071 A:Q96EK6:0.071
 COA
HOH
 6.535
3.546
 CZ
CA
 O2A
O
3cxq 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 PHE A:168 A:168 15.0 0.071 T -100.8 8.5 3.0 0.014 0.057 A:Q96EK6:0.057
 HOH
 3.629
 CD1
 O
3cxs 1 Q96EK6 100.0 9e-138 X-RAY
 2008-09-16 PHE A:168 A:168 10.0 0.048 T -108.8 -0.3 1.0 0.005 0.043 A:Q96EK6:0.043
3cxp 1 Q96EK6 99.46 5e-137 X-RAY
 2008-09-16 PHE A:168 A:168 14.0 0.067 T -106.3 10.9 2.0 0.01 0.057 A:Q96EK6:0.057
 HOH
 3.853
 CD1
 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 PHE A:168 A:168 12.0 0.057 G -111.0 16.5