Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 6128632 . C A CCDS8539.1:NM_000552.3:c.3952Gtg>Ttg_NP_000543.2:p.1318V>L Homo sapiens von Willebrand factor (VWF), 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)
5bv8 1 P04275 99.11 3e-149 X-RAY
 2015-12-23 VAL A:93 A:1318 1.0 0.006 E -131.0 123.1 1.0 0.006 0.0 HOH
 4.796
 N
 O
7f49 1 P04275 99.05 2e-140 X-RAY
 2021-07-07 VAL A:60 A:555 0.0 0.0 E -134.2 123.4 0.0 0.0 0.0 HOH
 4.745
 N
 O
1uex 3 P04275 99.52 3e-140 X-RAY
 2003-09-30 VAL C:59 C:555 0.0 0.0 E -129.1 125.5 0.0 0.0 0.0
3hxo 1 P04275 99.52 3e-140 X-RAY
 2009-11-17 VAL A:59 A:555 1.0 0.006 E -120.4 128.9 1.0 0.006 0.0 HOH
 6.190
 O
 O
3hxq 1 P04275 99.52 3e-140 X-RAY
 2009-11-17 VAL A:59 A:555 2.0 0.013 E -132.9 121.8 2.0 0.013 0.0 HOH
 7.984
 N
 O
7eow 1 P04275 100.0 7e-140 X-RAY
 2021-07-07 VAL A:82 A:82 1.0 0.006 E -132.4 121.7 1.0 0.006 0.0 HOH
 4.810
 N
 O
1auq 1 P04275 99.52 1e-139 X-RAY
 1998-10-14 VAL A:58 A:555 0.0 0.0 E -130.7 122.2 0.0 0.0 0.0 HOH
 6.975
 N
 O
1u0n 1 P04275 99.52 1e-139 X-RAY
 2005-04-19 VAL A:58 A:555 1.0 0.006 E -137.2 109.2 1.0 0.006 0.0
1m10 1 P04275 99.04 7e-139 X-RAY
 2002-08-28 VAL A:58 A:555 0.0 0.0 E -123.5 122.7 0.0 0.0 0.0
7a6o 1 L8E853 99.51 5e-137 X-RAY
 2021-03-03 VAL A:57 AAA:1318 1.0 0.006 E -124.7 116.2 1.0 0.006 0.0 HOH
 4.680
 HG22
 O
1ijb 1 P04275 99.01 4e-134 X-RAY
 2002-07-10 VAL A:56 A:555 0.0 0.0 E -134.8 123.8 0.0 0.0 0.0 HOH
 4.420
 N
 O
1ijk 1 P04275 99.01 4e-134 X-RAY
 2002-07-10 VAL A:56 A:555 1.0 0.006 E -126.0 121.9 1.0 0.006 0.0 HOH
 7.271
 O
 O
1sq0 1 P04275 99.01 5e-134 X-RAY
 2004-04-13 VAL A:60 A:555 1.0 0.006 E -134.6 124.5 1.0 0.006 0.0 HOH
 6.272
 O
 O
4c2a 1 P04275 98.48 3e-130 X-RAY
 2014-01-08 VAL A:56 A:1318 0.0 0.0 E -129.7 118.8 0.0 0.0 0.0 HOH
 4.834
 N
 O
1oak 3 P04275 99.49 1e-128 X-RAY
 1998-10-21 VAL C:49 A:555 1.0 0.006 E -128.0 130.3 1.0 0.006 0.0 HOH
 6.616
 O
 O
1fns 3 P04275 98.97 2e-128 X-RAY
 2000-10-18 VAL C:49 A:555 1.0 0.006 E -139.9 122.7 1.0 0.006 0.0 HOH
 4.802
 N
 O
4c29 1 P04275 98.48 4e-128 X-RAY
 2014-01-08 VAL A:56 A:1318 1.0 0.006 E -128.4 117.2 1.0 0.006 0.0 HOH
 6.654
 N
 O
VAL B:56 B:1318 1.0 0.006 E -129.0 117.7 NA NA NA
4c2b 1 P04275 98.48 4e-128 X-RAY
 2014-01-08 VAL A:56 A:1318 1.0 0.006 E -102.3 116.8 1.0 0.006 0.0
VAL C:56 C:1318 1.0 0.006 E -98.6 115.7 NA NA NA
VAL E:56 E:1318 2.0 0.013 E -111.2 116.5 NA NA NA
VAL G:56 G:1318 1.0 0.006 E -95.5 122.8 NA NA NA
1u0o 3 Q8CIZ8 87.02 2e-119 X-RAY
 2005-04-19 VAL C:58 C:555 0.0 0.0 E -131.3 116.6 0.0 0.0 0.0 HOH
 6.001
 N
 O

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-p04275-f1 1 P04275 99.93 0.0 VAL A:1318 A:1318 0.0 0.0 E -133.4 119.4
af-p04275-f2 1 P04275 99.93 0.0 VAL A:1118 A:1118 0.0 0.0 E -129.5 119.1
af-p04275-f3 1 P04275 99.93 0.0 VAL A:918 A:918 1.0 0.006 E -129.3 120.8
af-p04275-f6 1 P04275 100.0 0.0 VAL A:318 A:318 0.0 0.0 E -126.9 118.1
af-p04275-f5 1 P04275 99.93 0.0 VAL A:518 A:518 1.0 0.006 E -126.9 119.9
af-p04275-f7 1 P04275 100.0 0.0 VAL A:118 A:118 1.0 0.006 E -130.1 119.7
af-p04275-f4 1 P04275 99.93 0.0 VAL A:718 A:718 1.0 0.006 E -129.6 119.4