Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 110006578 . A C CCDS9131.1:NM_052845.3:c.287aTt>aGt_NP_443077.1:p.96I>S 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 ILE A:42 A:96 0.0 0.0 H -69.3 -45.3 0.0 0.0 0.0 HOH
5.352
O
O
ILE B:42 B:96 0.0 0.0 H -55.6 -42.7 0.0 0.0 0.0 HOH
5.387
O
O
ILE C:42 C:96 0.0 0.0 H -56.8 -40.6 0.0 0.0 0.0 HOH
5.452
O
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ILE A:42 A:96 0.0 0.0 H -60.4 -36.8 0.0 0.0 0.0
ILE B:42 B:96 0.0 0.0 H -58.4 -38.6 0.0 0.0 0.0
ILE C:42 C:96 0.0 0.0 H -59.0 -37.9 0.0 0.0 0.0
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ILE A:42 A:96 0.0 0.0 H -65.2 -37.2 0.0 0.0 0.0 HOH
7.877
CB
O
ILE B:42 B:96 0.0 0.0 H -63.9 -38.3 0.0 0.0 0.0 HOH
7.913
CB
O
ILE C:42 C:96 0.0 0.0 H -63.2 -37.0 0.0 0.0 0.0 HOH
9.269
CD1
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 ILE A:42 A:96 0.0 0.0 H -65.5 -36.4 0.0 0.0 0.0 HOH
7.127
O
O
ILE B:42 B:96 1.0 0.006 H -64.2 -36.4 NA NA NA
ILE C:42 C:96 0.0 0.0 H -67.2 -36.2 NA NA NA
ILE D:42 D:96 0.0 0.0 H -63.3 -37.3 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ILE A:42 E:96 0.0 0.0 H -63.2 -38.7 0.0 0.0 0.0 HOH
5.218
N
O
ILE B:42 C:96 0.0 0.0 H -65.0 -38.2 NA NA NA
ILE C:42 F:96 0.0 0.0 H -61.7 -38.2 NA NA NA
ILE D:42 B:96 0.0 0.0 H -63.9 -38.1 NA NA NA
ILE E:42 A:96 0.0 0.0 H -64.9 -37.7 NA NA NA
ILE F:42 D:96 0.0 0.0 H -62.9 -36.8 0.0 0.0 0.0 HOH
5.140
N
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ILE A:42 A:96 0.0 0.0 H -64.4 -35.3 0.0 0.0 0.0 ACT
HOH
8.801
5.555
CD1
C
CH3
O
ILE B:42 B:96 0.0 0.0 H -64.0 -38.9 NA NA NA
ILE C:42 C:96 0.0 0.0 H -60.9 -38.9 NA NA NA
ILE D:42 D:96 0.0 0.0 H -65.1 -38.3 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 ILE A:96 A:96 1.0 0.006 H -63.9 -41.3