Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 110002938 . C A CCDS9131.1:NM_052845.3:c.334Gaa>Taa_NP_443077.1:p.112E>* 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 GLU A:58 A:112 97.0 0.511 H -62.7 -48.8 97.0 0.511 0.0 SO4
HOH
 6.290
4.104
 OE1
N
 O1
O
GLU B:58 B:112 113.0 0.595 H -61.5 -40.7 113.0 0.595 0.0 SO4
HOH
 7.363
4.964
 N
OE1
 O3
O
GLU C:58 C:112 103.0 0.542 H -63.2 -39.2 103.0 0.542 0.0 SO4
HOH
 6.762
6.167
 N
OE2
 O1
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:58 A:112 118.0 0.621 H -62.9 -41.0 118.0 0.621 0.0 SO4
 7.810
 N
 O2
GLU B:58 B:112 119.0 0.626 H -60.3 -44.0 119.0 0.626 0.0 SO4
 7.477
 N
 O1
GLU C:58 C:112 118.0 0.621 H -61.9 -39.5 118.0 0.621 0.0 SO4
 7.659
 N
 O1
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 GLU A:58 A:112 118.0 0.621 H -60.8 -38.9 118.0 0.621 0.0 SO4
HOH
 7.239
7.857
 OE1
O
 O3
O
GLU B:58 B:112 112.0 0.589 H -58.0 -40.4 112.0 0.589 0.0 SO4
HOH
 7.627
6.451
 N
CB
 O2
O
GLU C:58 C:112 107.0 0.563 H -55.9 -41.8 107.0 0.563 0.0 SO4
HOH
 7.691
7.531
 N
O
 O1
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 GLU A:58 A:112 150.0 0.789 H -65.7 -31.6 150.0 0.789 0.0 HOH
 6.215
 OE2
 O
GLU B:58 B:112 127.0 0.668 H -65.5 -29.9 NA NA NA
GLU C:58 C:112 141.0 0.742 H -61.5 -37.9 NA NA NA
GLU D:58 D:112 68.0 NA H -58.3 -37.1 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:58 E:112 139.0 0.732 H -68.5 -33.7 139.0 0.732 0.0 HOH
 2.953
 N
 O
GLU B:58 C:112 58.0 NA H -63.5 -37.5 NA NA NA
GLU C:58 F:112 143.0 0.753 H -66.2 -37.1 NA NA NA
GLU D:58 B:112 68.0 NA H -66.0 -36.5 NA NA NA
GLU E:58 A:112 138.0 0.726 H -63.8 -33.9 NA NA NA
GLU F:58 D:112 121.0 0.637 H -66.5 -35.4 121.0 0.637 0.0 HOH
 2.799
 O
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 GLU A:58 A:112 159.0 0.837 H -67.1 -31.6 159.0 0.837 0.0 ACT
HOH
 7.969
6.456
 O
C
 C
O
GLU B:58 B:112 151.0 0.795 H -66.6 -32.3 NA NA NA
GLU C:58 C:112 125.0 0.658 H -68.5 -28.2 NA NA NA
GLU D:58 D:112 160.0 0.842 H -68.0 -35.5 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 GLU A:112 A:112 158.0 0.832 H -63.3 -35.0