Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109996920 . C A CCDS9131.1:NM_052845.3:c.625Gtg>Ttg_NP_443077.1:p.209V>L 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 VAL A:155 A:209 0.0 0.0 H -60.4 -40.7 0.0 0.0 0.0 HOH
8.170
O
O
VAL B:155 B:209 0.0 0.0 H -73.8 -43.8 0.0 0.0 0.0 HOH
6.005
CG2
O
VAL C:155 C:209 0.0 0.0 H -58.3 -46.4 0.0 0.0 0.0 HOH
4.885
CG2
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 VAL A:155 A:209 0.0 0.0 H -70.5 -48.4 0.0 0.0 0.0
VAL B:155 B:209 0.0 0.0 H -64.1 -46.7 0.0 0.0 0.0 SO4
9.878
C
O1
VAL C:155 C:209 0.0 0.0 H -67.8 -48.4 0.0 0.0 0.0 SO4
8.433
N
O2
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 VAL A:155 A:209 0.0 0.0 H -60.9 -48.1 0.0 0.0 0.0
VAL B:155 B:209 1.0 0.006 H -65.0 -48.0 1.0 0.006 0.0 HOH
4.530
CG2
O
VAL C:155 C:209 0.0 0.0 H -65.3 -47.9 0.0 0.0 0.0 SO4
HOH
8.077
6.769
N
C
O2
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 VAL A:155 A:209 0.0 0.0 H -55.4 -51.5 0.0 0.0 0.0 HOH
8.690
C
O
VAL B:155 B:209 0.0 0.0 H -59.1 -49.2 NA NA NA
VAL C:155 C:209 0.0 0.0 H -64.7 -44.2 NA NA NA
VAL D:155 D:209 0.0 0.0 H -61.1 -47.4 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 VAL A:155 E:209 0.0 0.0 H -66.2 -44.5 0.0 0.0 0.0 HOH
4.362
CG2
O
VAL B:155 C:209 0.0 0.0 H -65.4 -45.6 NA NA NA
VAL C:155 F:209 0.0 0.0 H -61.5 -46.4 NA NA NA
VAL D:155 B:209 0.0 0.0 H -61.1 -47.5 NA NA NA
VAL E:155 A:209 0.0 0.0 H -61.2 -47.6 NA NA NA
VAL F:155 D:209 0.0 0.0 H -63.1 -45.2 0.0 0.0 0.0 HOH
4.356
CG2
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 VAL A:155 A:209 0.0 0.0 H -65.0 -45.8 0.0 0.0 0.0 HOH
4.127
CG2
O
VAL B:155 B:209 0.0 0.0 H -66.4 -49.4 NA NA NA
VAL C:155 C:209 0.0 0.0 H -67.3 -46.0 NA NA NA
VAL D:155 D:209 0.0 0.0 H -62.3 -47.9 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 VAL A:209 A:209 0.0 0.0 H -63.3 -48.0