Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109994886 . G A CCDS9131.1:NM_052845.3:c.700Caa>Taa_NP_443077.1:p.234Q>* 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 GLN A:180 A:234 167.0 0.928 65.4 102.9 167.0 0.928 0.0 HOH
7.414
C
O
GLN B:180 B:234 135.0 0.75 -58.9 129.6 135.0 0.75 0.0 HOH
2.643
NE2
O
GLN C:180 C:234 145.0 0.806 -90.9 127.7 145.0 0.806 0.0 HOH
5.500
NE2
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 GLN A:180 A:234 146.0 0.811 -50.6 -62.5 146.0 0.811 0.0 HOH
7.266
O
O
GLN B:180 B:234 158.0 0.878 -106.2 131.0 158.0 0.878 0.0
GLN C:180 C:234 138.0 0.767 -109.7 121.2 138.0 0.767 0.0
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 GLN A:180 A:234 148.0 0.822 -86.0 134.5 148.0 0.822 0.0 HOH
6.607
O
O
GLN B:180 B:234 170.0 0.944 -97.4 138.1 170.0 0.944 0.0
GLN C:180 C:234 164.0 0.911 -95.2 131.6 164.0 0.911 0.0
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 GLN A:180 A:234 143.0 0.794 -85.7 141.3 143.0 0.794 0.0 HOH
4.002
OE1
O
GLN B:180 B:234 80.0 NA -76.7 141.5 NA NA NA
GLN C:180 C:234 151.0 0.839 -74.0 140.0 NA NA NA
GLN D:180 D:234 179.0 0.994 -79.7 152.7 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 GLN A:180 E:234 160.0 0.889 -93.0 114.9 160.0 0.889 0.0 HOH
2.769
O
O
GLN B:180 C:234 153.0 0.85 -82.2 117.2 NA NA NA
GLN C:180 F:234 89.0 NA -76.3 126.4 NA NA NA
GLN D:180 B:234 89.0 NA -75.7 134.2 NA NA NA
GLN E:180 A:234 90.0 NA -75.8 148.2 NA NA NA
GLN F:180 D:234 89.0 NA -80.3 125.6 89.0 NA NA HOH
2.784
O
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 GLN A:180 A:234 170.0 0.944 -79.0 137.3 170.0 0.944 0.0 HOH
4.313
C
O
GLN B:180 B:234 176.0 0.978 -76.0 138.9 NA NA NA
GLN C:180 C:234 80.0 NA -69.7 144.6 NA NA NA
GLN D:180 D:234 167.0 0.928 -71.0 145.2 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 GLN A:234 A:234 180.0 1.0 -87.2 132.0