Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109998875 . C A CCDS9131.1:NM_052845.3:c.554tGc>tTc_NP_443077.1:p.185C>F 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:131 A:185 1.0 0.007 H -50.7 -43.0 1.0 0.007 0.0 HOH
 6.444
 C
 O
CYS B:131 B:185 1.0 0.007 H -45.9 -44.6 1.0 0.007 0.0 HOH
 5.992
 C
 O
CYS C:131 C:185 1.0 0.007 H -47.7 -48.0 1.0 0.007 0.0 ATP
HOH
 9.907
6.432
 O
C
 N6
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 CYS A:131 A:185 1.0 0.007 H -57.3 -41.0 1.0 0.007 0.0 B12
 8.447
 C
 O39
CYS B:131 B:185 1.0 0.007 H -50.4 -38.3 1.0 0.007 0.0 B12
HOH
 8.217
8.735
 C
O
 O39
O
CYS C:131 C:185 1.0 0.007 H -58.0 -43.8 1.0 0.007 0.0 ATP
 9.937
 O
 N6
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 CYS A:131 A:185 1.0 0.007 H -60.2 -39.2 1.0 0.007 0.0 B12
HOH
 8.463
7.707
 C
O
 O39
O
CYS B:131 B:185 1.0 0.007 H -56.3 -39.9 1.0 0.007 0.0 5AD
B12
HOH
 9.977
8.499
7.655
 O
C
O
 N6
O39
O
CYS C:131 C:185 1.0 0.007 H -56.7 -40.0 1.0 0.007 0.0 HOH
 6.299
 C
 O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 CYS A:131 A:185 1.0 0.007 H -56.3 -39.7 1.0 0.007 0.0 B12
HOH
 8.426
7.546
 C
O
 O39
O
CYS B:131 B:185 2.0 0.015 H -57.5 -36.9 NA NA NA
CYS C:131 C:185 1.0 0.007 H -57.3 -37.0 NA NA NA
CYS D:131 D:185 2.0 0.015 H -50.8 -42.7 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 CYS A:131 E:185 1.0 0.007 H -56.7 -40.3 1.0 0.007 0.0 GOL
HOH
 9.783
4.066
 C
SG
 O2
O
CYS B:131 C:185 1.0 0.007 H -55.8 -41.8 NA NA NA
CYS C:131 F:185 2.0 0.015 H -55.8 -42.9 NA NA NA
CYS D:131 B:185 1.0 0.007 H -57.2 -43.4 NA NA NA
CYS E:131 A:185 2.0 0.015 H -53.0 -44.5 NA NA NA
CYS F:131 D:185 2.0 0.015 H -59.7 -40.3 2.0 0.015 0.0 HOH
 3.966
 SG
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 CYS A:131 A:185 1.0 0.007 H -53.6 -43.9 1.0 0.007 0.0 B12
HOH
 8.212
7.138
 C
N
 O39
O
CYS B:131 B:185 2.0 0.015 H -59.4 -39.7 NA NA NA
CYS C:131 C:185 2.0 0.015 H -55.0 -43.8 NA NA NA
CYS D:131 D:185 1.0 0.007 H -57.8 -40.6 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:185 A:185 1.0 0.007 H -54.6 -44.1