Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr22 30038259 . C A CCDS13861.1:NM_000268.3:c.432taC>taA_NP_000259.1:p.144Y>* Homo sapiens neurofibromin 2 (NF2), 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)
6cds 1 P35240 99.71 0.0 X-RAY
 2018-07-18 TYR A:144 A:144 19.0 0.083 H -78.4 -37.0 19.0 0.083 0.0 HOH
 7.264
 CE1
 O
TYR B:144 B:144 18.0 0.078 H -65.2 -41.4 NA NA NA
7lwh 1 P35240 99.41 0.0 X-RAY
 2021-08-11 TYR A:144 A:144 36.0 0.157 H -75.8 -35.5 22.0 0.096 0.061 B:O95835:0.061
 HOH
 2.984
 OH
 O
1isn 1 P46662 99.38 0.0 X-RAY
 2002-04-03 TYR A:127 A:144 29.0 0.126 H -76.3 -35.3 29.0 0.126 0.0
4zrj 1 P35240 100.0 0.0 X-RAY
 2015-06-17 TYR A:144 A:144 22.0 0.096 H -74.4 -40.1 7.0 0.03 0.066 B:P35240:0.065
 HOH
 5.206
 O
 O
4zri 1 P35240 100.0 0.0 X-RAY
 2015-06-17 TYR A:148 A:144 21.0 0.091 H -81.6 -39.5 12.0 0.052 0.039 C:Q9NRM7:0.039
TYR B:148 B:144 27.0 0.117 H -60.2 -31.5 NA NA NA
4zrk 1 P46662 99.38 0.0 X-RAY
 2015-06-17 TYR A:148 A:144 19.0 0.083 H -74.7 -33.7 0.0 0.0 0.083 E:O95835:0.083
TYR B:148 B:144 28.0 0.122 H -73.2 -34.6 NA NA NA
TYR C:148 C:144 29.0 0.126 H -72.3 -35.2 NA NA NA
TYR D:148 D:144 19.0 0.083 H -72.9 -34.3 NA NA NA
1h4r 1 P35240 100.0 0.0 X-RAY
 2002-01-16 TYR A:145 A:144 36.0 0.157 H -77.4 -37.0 36.0 0.157 0.0 SO4
HOH
 2.523
2.997
 OH
OH
 O1
O
TYR B:145 B:144 27.0 0.117 H -77.8 -35.3 27.0 0.117 0.0 SO4
HOH
 3.291
2.730
 OH
OH
 O2
O
4p7i 1 P46662 99.36 0.0 X-RAY
 2014-04-09 TYR A:148 A:144 19.0 0.083 H -70.6 -34.4 19.0 0.083 0.0
TYR B:148 B:144 23.0 0.1 H -65.4 -30.7 NA NA NA
3u8z 1 P35240 100.0 0.0 X-RAY
 2011-11-02 TYR A:132 A:144 57.0 0.248 H -71.2 -37.0 57.0 0.248 0.0 HOH
 3.658
 CE1
 O
TYR B:132 B:144 59.0 0.257 H -70.8 -36.5 NA NA NA
TYR C:132 C:144 73.0 0.317 H -68.6 -37.4 73.0 0.317 0.0 HOH
 4.132
 CE1
 O
TYR D:132 D:144 61.0 0.265 H -70.4 -37.1 NA NA NA
3wa0 1 P46662 99.32 0.0 X-RAY
 2014-05-28 TYR A:131 A:144 20.0 0.087 H -72.2 -30.5 20.0 0.087 0.0 HOH
 3.223
 OH
 O
TYR B:131 B:144 20.0 0.087 H -75.5 -34.8 NA NA NA
TYR C:131 C:144 15.0 0.065 H -72.8 -38.6 NA NA NA
TYR D:131 D:144 18.0 0.078 H -76.3 -32.8 NA NA NA
TYR E:131 E:144 17.0 0.074 H -79.6 -37.7 NA NA NA
TYR F:131 F:144 15.0 0.065 H -76.6 -38.5 NA NA NA

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-p35240-f1 1 P35240 100.0 0.0 TYR A:144 A:144 12.0 0.052 H -67.8 -37.3