Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109994870 . A C CCDS9131.1:NM_052845.3:c.716aTg>aGg_NP_443077.1:p.239M>R 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 MET A:185 A:239 170.0 0.919 -149.8 128.4 146.0 0.789 0.13 C:Q96EY8:0.13
HOH
8.723
N
O
MET B:185 B:239 172.0 0.93 -130.1 135.5 131.0 0.708 0.222 A:Q96EY8:0.222
HOH
5.065
N
O
MET C:185 C:239 156.0 0.843 -120.9 -169.4 135.0 0.73 0.113 B:Q96EY8:0.114
HOH
3.587
O
O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 MET A:185 A:239 138.0 0.746 -148.3 127.6 132.0 0.714 0.032 C:Q96EY8:0.032
B12
HOH
3.311
7.024
CE
N
O5
O
MET B:185 NA:NA DO NA DO DO DO NA NA NA
MET C:185 C:239 135.0 0.73 -135.8 120.9 114.0 0.616 0.114 B:Q96EY8:0.114
HOH
8.134
C
O
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
2018-10-10 MET A:185 A:239 178.0 0.962 -110.2 360.0 178.0 0.962 0.0 B12
HOH
6.266
4.345
SD
SD
O4
O
MET B:185 B:239 201.0 1.0 -130.0 360.0 124.0 0.67 0.33 A:Q96EY8:0.416
B12
HOH
8.249
8.873
N
CA
O4
O
MET C:185 C:239 141.0 0.762 -143.1 131.9 105.0 0.568 0.194 B:Q96EY8:0.195
HOH
7.210
O
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
2021-11-24 MET A:185 A:239 196.0 1.0 -117.0 360.0 196.0 1.0 0.0 B12
HOH
6.310
4.858
SD
SD
O4
O
MET B:185 B:239 187.0 1.0 -143.8 360.0 NA NA NA
MET C:185 C:239 207.0 1.0 -117.1 360.0 NA NA NA
MET D:185 D:239 129.0 NA -110.7 360.0 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 MET A:185 E:239 76.0 NA -138.2 138.6 59.0 NA NA E:Q96EY8:NA
HOH
3.102
O
O
MET B:185 C:239 147.0 0.795 -133.2 136.3 NA NA NA
MET C:185 F:239 144.0 0.778 -147.2 142.4 NA NA NA
MET D:185 B:239 170.0 0.919 -130.8 161.0 NA NA NA
MET E:185 A:239 81.0 NA -127.7 126.2 NA NA NA
MET F:185 D:239 158.0 0.854 -135.6 140.8 135.0 0.73 0.124 A:Q96EY8:0.124
HOH
3.130
O
O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
2021-11-24 MET A:185 A:239 84.0 NA -127.1 -60.1 80.0 NA NA A:Q96EY8:NA
B12
HOH
6.319
4.702
O
O
O4
O
MET B:185 B:239 88.0 NA -138.6 120.6 NA NA NA
MET C:185 NA:NA DO NA DO DO DO NA NA NA
MET D:185 D:239 154.0 0.832 -127.1 129.1 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 MET A:239 A:239 161.0 0.87 -102.7 124.0