Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109994921 . G A CCDS9131.1:NM_052845.3:c.665aCg>aTg_NP_443077.1:p.222T>M 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 THR A:168 A:222 16.0 0.114 H -55.6 -49.9 16.0 0.114 0.0 MG
HOH
 8.911
4.698
 OG1
OG1
 MG
O
THR B:168 B:222 13.0 0.093 H -73.5 -30.2 13.0 0.093 0.0 HOH
 6.699
 O
 O
THR C:168 C:222 11.0 0.079 H -71.0 -33.4 1.0 0.007 0.072 B:Q96EY8:0.071
 MG
HOH
 9.110
5.414
 CG2
CG2
 MG
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 THR A:168 A:222 13.0 0.093 H -63.7 -34.4 13.0 0.093 0.0 B12
 6.758
 N
 N40
THR B:168 B:222 16.0 0.114 H -68.9 -31.6 16.0 0.114 0.0 B12
 6.740
 N
 N40
THR C:168 C:222 12.0 0.086 H -68.3 -28.7 0.0 0.0 0.086 B:Q96EY8:0.086
 MG
HOH
 9.342
7.890
 OG1
N
 MG
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 THR A:168 A:222 14.0 0.1 H -62.0 -41.2 14.0 0.1 0.0 B12
HOH
 6.705
6.898
 N
O
 N40
O
THR B:168 B:222 14.0 0.1 H -65.9 -37.9 14.0 0.1 0.0 B12
HOH
 6.737
8.934
 N
OG1
 N40
O
THR C:168 C:222 15.0 0.107 H -66.3 -37.2 3.0 0.021 0.086 B:Q96EY8:0.086
 MG
HOH
 9.593
7.652
 OG1
N
 MG
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 THR A:168 A:222 11.0 0.079 H -68.9 -41.8 11.0 0.079 0.0 B12
HOH
 6.442
5.133
 N
OG1
 N40
O
THR B:168 B:222 13.0 0.093 H -66.1 -40.3 NA NA NA
THR C:168 C:222 14.0 0.1 H -68.6 -40.4 NA NA NA
THR D:168 D:222 11.0 0.079 H -67.3 -41.8 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 THR A:168 E:222 13.0 0.093 H -66.3 -40.0 3.0 0.021 0.072 E:Q96EY8:0.071
 GOL
K
HOH
 6.786
8.438
6.691
 N
OG1
CG2
 O2
K
O
THR B:168 C:222 14.0 0.1 H -62.8 -40.4 NA NA NA
THR C:168 F:222 18.0 0.129 H -63.8 -40.3 NA NA NA
THR D:168 B:222 11.0 0.079 H -68.1 -40.3 NA NA NA
THR E:168 A:222 10.0 0.071 H -66.9 -40.9 NA NA NA
THR F:168 D:222 16.0 0.114 H -64.4 -42.1 6.0 0.043 0.071 A:Q96EY8:0.071
 MG
K
HOH
 7.990
8.479
2.755
 OG1
OG1
OG1
 MG
K
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 THR A:168 A:222 9.0 0.064 H -65.4 -41.6 9.0 0.064 0.0 B12
HOH
 6.476
3.258
 N
OG1
 N40
O
THR B:168 B:222 12.0 0.086 H -69.2 -39.6 NA NA NA
THR C:168 C:222 11.0 0.079 H -68.9 -40.5 NA NA NA
THR D:168 D:222 12.0 0.086 H -68.5 -40.5 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 THR A:222 A:222 11.0 0.079 H -61.0 -41.8