Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109999649 . G A CCDS9131.1:NM_052845.3:c.357tgC>tgT_NP_443077.1:p.119C>C 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 CYS A:65 A:119 76.0 0.563 H -59.4 -53.4 9.0 0.067 0.496 B:Q96EY8:0.496
 HOH
 4.763
 N
 O
CYS B:65 B:119 81.0 0.6 H -69.1 -45.5 12.0 0.089 0.511 C:Q96EY8:0.511
 HOH
 3.579
 CB
 O
CYS C:65 C:119 84.0 0.622 H -66.4 -41.6 12.0 0.089 0.533 A:Q96EY8:0.533
 HOH
 4.475
 N
 O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 CYS A:65 A:119 68.0 0.504 H -63.1 -47.3 21.0 0.156 0.348 B:Q96EY8:0.348
 B12
 6.653
 O
 N52
CYS B:65 B:119 85.0 0.63 H -50.6 -52.1 15.0 0.111 0.519 C:Q96EY8:0.519
 HOH
 6.514
 O
 O
CYS C:65 C:119 73.0 0.541 H -62.8 -48.7 17.0 0.126 0.415 A:Q96EY8:0.415
 B12
HOH
 6.988
8.875
 O
SG
 N52
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 CYS A:65 A:119 72.0 0.533 H -60.2 -46.0 9.0 0.067 0.466 B:Q96EY8:0.467
 B12
HOH
 6.691
4.770
 O
N
 O51
O
CYS B:65 B:119 80.0 0.593 H -60.0 -45.3 6.0 0.044 0.549 C:Q96EY8:0.548
 HOH
 4.585
 N
 O
CYS C:65 C:119 73.0 0.541 H -60.3 -45.8 21.0 0.156 0.385 A:Q96EY8:0.385
 B12
HOH
 6.954
5.966
 O
SG
 O51
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 CYS A:65 A:119 70.0 0.519 H -59.4 -47.3 18.0 0.133 0.386 A:Q96EY8:0.385
 B12
HOH
 6.924
4.806
 O
N
 O51
O
CYS B:65 B:119 65.0 0.481 H -59.3 -45.8 NA NA NA
CYS C:65 C:119 75.0 0.556 H -62.1 -48.7 NA NA NA
CYS D:65 D:119 76.0 0.563 H -62.5 -49.8 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 CYS A:65 E:119 74.0 0.548 H -61.6 -46.6 12.0 0.089 0.459 F:Q96EY8:0.459
 HOH
 3.415
 SG
 O
CYS B:65 C:119 77.0 0.57 H -59.6 -46.9 NA NA NA
CYS C:65 F:119 84.0 0.622 H -62.1 -46.5 NA NA NA
CYS D:65 B:119 84.0 0.622 H -62.4 -45.4 NA NA NA
CYS E:65 A:119 78.0 0.578 H -62.7 -46.6 NA NA NA
CYS F:65 D:119 75.0 0.556 H -64.6 -46.5 22.0 0.163 0.393 E:Q96EY8:0.393
 HOH
 4.713
 N
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 CYS A:65 A:119 72.0 0.533 H -64.5 -44.3 19.0 0.141 0.392 A:Q96EY8:0.393
 ACT
B12
HOH
 6.257
7.071
4.822
 C
O
N
 CH3
N52
O
CYS B:65 B:119 73.0 0.541 H -62.0 -45.7 NA NA NA
CYS C:65 C:119 72.0 0.533 H -58.5 -48.2 NA NA NA
CYS D:65 D:119 74.0 0.548 H -61.8 -45.9 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 CYS A:119 A:119 76.0 0.563 H -62.1 -45.3