Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 110006575 . C A CCDS9131.1:NM_052845.3:c.290gGg>gTg_NP_443077.1:p.97G>V Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), transcript variant 1, 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)
2idx 1 Q96EY8 99.49 4e-145 X-RAY
 2007-02-06 GLY A:43 A:97 21.0 0.28 H -48.3 -46.3 1.0 0.013 0.267 B:Q96EY8:0.267
 HOH
 2.600
 O
 O
GLY B:43 B:97 19.0 0.253 H -53.0 -45.0 0.0 0.0 0.253 C:Q96EY8:0.253
 HOH
 2.938
 O
 O
GLY C:43 C:97 21.0 0.28 H -53.0 -45.9 1.0 0.013 0.267 A:Q96EY8:0.267
 HOH
 2.809
 O
 O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLY A:43 A:97 19.0 0.253 H -62.0 -46.3 1.0 0.013 0.24 B:Q96EY8:0.24
GLY B:43 B:97 20.0 0.267 H -63.9 -37.8 1.0 0.013 0.254 C:Q96EY8:0.253
GLY C:43 C:97 20.0 0.267 H -60.6 -47.1 2.0 0.027 0.24 A:Q96EY8:0.24
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLY A:43 A:97 19.0 0.253 H -61.4 -45.4 2.0 0.027 0.226 B:Q96EY8:0.227
 HOH
 8.043
 N
 O
GLY B:43 B:97 21.0 0.28 H -61.2 -46.1 1.0 0.013 0.267 C:Q96EY8:0.267
 HOH
 8.193
 N
 O
GLY C:43 C:97 20.0 0.267 H -60.6 -45.0 2.0 0.027 0.24 A:Q96EY8:0.24
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 GLY A:43 A:97 17.0 0.227 H -54.0 -43.4 1.0 0.013 0.214 A:Q96EY8:0.213
 HOH
 6.017
 CA
 O
GLY B:43 B:97 18.0 0.24 H -56.9 -41.1 NA NA NA
GLY C:43 C:97 15.0 0.2 H -56.1 -47.7 NA NA NA
GLY D:43 D:97 16.0 0.213 H -58.6 -41.5 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLY A:43 E:97 17.0 0.227 H -60.4 -39.8 1.0 0.013 0.214 F:Q96EY8:0.213
 HOH
 2.684
 O
 O
GLY B:43 C:97 16.0 0.213 H -58.7 -39.6 NA NA NA
GLY C:43 F:97 15.0 0.2 H -58.7 -38.3 NA NA NA
GLY D:43 B:97 18.0 0.24 H -61.0 -37.5 NA NA NA
GLY E:43 A:97 18.0 0.24 H -60.8 -39.2 NA NA NA
GLY F:43 D:97 15.0 0.2 H -61.6 -38.1 0.0 0.0 0.2 E:Q96EY8:0.2
 HOH
 2.790
 O
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLY A:43 A:97 17.0 0.227 H -60.0 -40.5 0.0 0.0 0.227 A:Q96EY8:0.227
 HOH
 3.817
 CA
 O
GLY B:43 B:97 17.0 0.227 H -57.6 -37.8 NA NA NA
GLY C:43 C:97 26.0 0.347 H -58.6 -39.5 NA NA NA
GLY D:43 D:97 17.0 0.227 H -55.8 -40.9 NA NA NA

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-q96ey8-f1 1 Q96EY8 100.0 0.0 GLY A:97 A:97 19.0 0.253 H -58.1 -44.9