Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109999626 . G A CCDS9131.1:NM_052845.3:c.380gCc>gTc_NP_443077.1:p.127A>V 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 ALA A:73 A:127 44.0 0.383 H -63.5 -47.5 44.0 0.383 0.0 HOH
3.687
O
O
ALA B:73 B:127 13.0 0.113 H -61.1 -44.9 13.0 0.113 0.0 HOH
2.710
O
O
ALA C:73 C:127 6.0 0.052 H -58.1 -53.2 6.0 0.052 0.0 HOH
2.761
O
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ALA A:73 A:127 10.0 0.087 H -65.0 -35.1 10.0 0.087 0.0 B12
SO4
5.754
9.372
N
O
O58
O3
ALA B:73 B:127 19.0 0.165 H -59.1 -51.4 19.0 0.165 0.0 HOH
6.395
N
O
ALA C:73 C:127 2.0 0.017 H -62.5 -40.6 2.0 0.017 0.0 B12
5.952
N
O58
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 ALA A:73 A:127 3.0 0.026 H -71.8 -33.5 3.0 0.026 0.0 B12
5.916
N
O58
ALA B:73 B:127 17.0 0.148 H -63.0 -46.7 17.0 0.148 0.0 HOH
2.560
O
O
ALA C:73 C:127 5.0 0.043 H -62.5 -47.6 5.0 0.043 0.0 B12
HOH
6.032
3.139
N
O
O58
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 ALA A:73 A:127 3.0 0.026 H -66.0 -33.8 3.0 0.026 0.0 B12
HOH
5.837
6.110
N
N
O58
O
ALA B:73 B:127 5.0 0.043 H -66.3 -33.3 NA NA NA
ALA C:73 C:127 3.0 0.026 H -60.0 -38.8 NA NA NA
ALA D:73 D:127 4.0 0.035 H -61.1 -41.2 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ALA A:73 E:127 9.0 0.078 H -61.3 -45.4 9.0 0.078 0.0 HOH
2.720
O
O
ALA B:73 C:127 6.0 0.052 H -63.3 -44.5 NA NA NA
ALA C:73 F:127 4.0 0.035 H -62.4 -46.0 NA NA NA
ALA D:73 B:127 6.0 0.052 H -64.5 -44.3 NA NA NA
ALA E:73 A:127 4.0 0.035 H -65.1 -45.0 NA NA NA
ALA F:73 D:127 3.0 0.026 H -61.6 -47.2 3.0 0.026 0.0 HOH
2.790
O
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 ALA A:73 A:127 10.0 0.087 H -65.8 -41.4 10.0 0.087 0.0 B12
HOH
5.676
3.688
N
N
O58
O
ALA B:73 B:127 35.0 0.304 H -62.5 -40.7 NA NA NA
ALA C:73 C:127 27.0 0.235 H -59.0 -43.9 NA NA NA
ALA D:73 D:127 35.0 0.304 H -63.9 -43.2 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 ALA A:127 A:127 4.0 0.035 H -64.9 -45.5