PDB ID 5KDM     CHAIN A
Protein name Histone H3.3
Uniprot Accession P84243
The number of similar proteins 393
The number of binding states 22
The number of binding partners 19

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   ARTKQTARKS   TGGKAPRKQL   ATKAARKSAP   STGGVKKPHR   YRPGTVALRE   50
51   IRRYQKSTEL   LIRKLPFQRL   VREIAQDFKT   DLRFQSAAIG   ALQEASEAYL   100
101   VGLFEDTNLC   AIHAKRVTIM   PKDIQLARRI   RGERA     150

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
38_PRO LEU 8.3kJPN
chr1:149785121
rs1553754959
- 0.0001 -
39_HIS ARG VAR_087170 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721]
39_HIS TYR VAR_087171 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
39_HIS PRO gnomAD
chr12:31944985
rs3759295
- 0.0755566 -
39_HIS PRO 8.3kJPN
chr12:31944985
rs3759295
- 0.1237 -
40_ARG CYS VAR_087172 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
40_ARG CYS ClinVar
chr1:226252173
rs2102735801
Pathogenic/Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
40_ARG HIS 8.3kJPN
chr6:27839972
rs759503770
- 0.0001 -
41_TYR CYS 8.3kJPN
chr6:26271488
-
- 0.0001 -
42_ARG HIS 8.3kJPN
chr6:26045766
rs1042668277
- 0.0001 -
42_ARG TRP 8.3kJPN
chr12:31944977
rs368361217
- 0.0003 -
45_THR ILE VAR_087173 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
45_THR ILE ClinVar
chr1:226253365
rs1657901999
Likely pathogenic - Inborn genetic diseases|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
47_ALA THR 8.3kJPN
chr6:27839952
rs777522650
- 0.0001 -
48_LEU ARG VAR_087174 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721]
51_ILE ASN VAR_087175 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721]
51_ILE ASN ClinVar
chr17:73775018
rs2143630846
Pathogenic/Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay|Bryant-Li-Bhoj neurodevelopmental syndrome 2 [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721]
52_ARG TRP 8.3kJPN
chr1:149785080
rs200122276
- 0.002 -
52_ARG HIS 8.3kJPN
chr1:228612869
rs201904037
- 0.0004 -
52_ARG HIS 8.3kJPN
chr6:26045796
-
- 0.0001 -
53_ARG HIS gnomAD
chr1:228612866
rs138699472
- 0.000409813 -
53_ARG HIS 8.3kJPN
chr1:149785076
rs782807753
- 0.0047 -
53_ARG HIS 8.3kJPN
chr6:26020878
rs1343210635
- 0.0001 -
54_TYR CYS 8.3kJPN
chr6:26020881
rs1561914338
- 0.0001 -
54_TYR HIS 8.3kJPN
chr6:26045801
-
- 0.0001 -
55_GLN LYS VAR_087176 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
55_GLN LYS ClinVar
chr1:226253394
rs2102736976
Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]
55_GLN TER 8.3kJPN
chr1:149785071
rs782001208
- 0.0001 -
55_GLN TER 8.3kJPN
chr6:26020883
rs138229455
- 0.0001 -
58_THR ALA 8.3kJPN
chr6:26020892
rs144238254
- 0.0001 -
58_THR ALA 8.3kJPN
chr6:26032114
rs765126317
- 0.0001 -
61_LEU ARG VAR_087177 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
61_LEU PHE 8.3kJPN
chr6:26020901
rs1026102996
- 0.0001 -
62_ILE VAL 8.3kJPN
chr6:26271426
rs889798197
- 0.0001 -
63_ARG CYS gnomAD
chr1:228612837
rs201294185
- 0.000433438 -
63_ARG GLY gnomAD
chr1:228612837
rs201294185
- 0.000139177 -
63_ARG CYS 8.3kJPN
chr1:228612837
rs201294185
- 0.0035 -
66_PRO LEU gnomAD
chr6:26020917
rs143364138
- 0.000433562 -
66_PRO HIS gnomAD
chr12:31944904
rs150875482
- 0.000186886 -
66_PRO SER 8.3kJPN
chr1:228612828
rs201625757
- 0.0001 -
66_PRO SER 8.3kJPN
chr6:26020916
rs369516106
- 0.0001 -
66_PRO LEU 8.3kJPN
chr6:26020917
rs143364138
- 0.0112 -
66_PRO LEU 8.3kJPN
chr6:26250634
rs768039332
- 0.0005 -
66_PRO LEU 8.3kJPN
chr6:26271413
rs756545644
- 0.0001 -
66_PRO LEU 8.3kJPN
chr6:27778051
rs769595845
- 0.0001 -
67_PHE LEU gnomAD
chr1:228612823
rs144064739
- 0.000123271 -
67_PHE TYR gnomAD
chr1:228612824
rs148655394
- 0.000123269 -
67_PHE SER gnomAD
chr6:26020920
rs147504514
- 0.000119325 -
67_PHE LEU 8.3kJPN
chr1:228612823
rs144064739
- 0.0095 -
67_PHE TYR 8.3kJPN
chr1:228612824
rs148655394
- 0.0095 -
67_PHE LEU 8.3kJPN
chr6:26045842
-
- 0.0001 -
68_GLN TER 8.3kJPN
chr6:26020922
rs181930473
- 0.0018 -
69_ARG TRP 8.3kJPN
chr1:149785029
-
- 0.0001 -
71_VAL LEU 8.3kJPN
chr6:26250620
-
- 0.0001 -
72_ARG TER 8.3kJPN
chr6:26225599
rs556601521
- 0.0001 -
72_ARG HIS 8.3kJPN
chr6:26250616
-
- 0.0001 -
72_ARG GLN 8.3kJPN
chr6:26271395
-
- 0.0001 -
74_ILE THR 8.3kJPN
chr12:31944880
rs765335300
- 0.0007 -
75_ALA THR 8.3kJPN
chr1:149785011
-
- 0.0001 -
75_ALA THR 8.3kJPN
chr6:26225608
-
- 0.0001 -
76_GLN TER 8.3kJPN
chr1:228612798
-
- 0.0001 -
77_ASP ASN VAR_087178 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
79_LYS TER 8.3kJPN
chr6:26271375
rs1390395268
- 0.0013 -
81_ASP HIS VAR_087179 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
81_ASP GLU 8.3kJPN
chr6:26020963
-
- 0.0001 -
82_LEU TRP 8.3kJPN
chr6:27778099
-
- 0.0001 -
83_ARG CYS VAR_087180 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
83_ARG GLY ClinVar
chr1:226253478
rs1657904113
Likely pathogenic - Neurodevelopmental disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
83_ARG PRO 8.3kJPN
chr1:149784986
-
- 0.0004 -
85_GLN HIS 8.3kJPN
chr6:26250576
-
- 0.0001 -
85_GLN ARG 8.3kJPN
chr12:31944847
-
- 0.0001 -
86_SER GLY gnomAD
chr6:26020976
rs145571906
- 0.000326124 -
86_SER ARG 8.3kJPN
chr6:27778112
-
- 0.0001 -
87_SER PRO gnomAD
chr1:149784975
rs782720234
- 0.000105161 -
88_ALA SER 8.3kJPN
chr1:228612762
-
- 0.0001 -
90_GLY ARG VAR_087181 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
90_MET LYS 8.3kJPN
chr6:26197207
-
- 0.0004 -
90_MET THR 8.3kJPN
chr6:26271341
rs759342007
- 0.0001 -
91_ALA THR 8.3kJPN
chr12:31944830
rs928601270
- 0.0001 -
92_LEU VAL 8.3kJPN
chr1:149784960
-
- 0.0001 -
95_ALA VAL 8.3kJPN
chr6:26045925
rs752518862
- 0.0001 -
95_ALA ASP 8.3kJPN
chr6:26225669
-
- 0.0001 -
96_CYS TRP 8.3kJPN
chr6:26031998
-
- 0.0001 -
97_GLU LYS 8.3kJPN
chr1:228612735
rs201439742
- - -
98_ALA VAL 8.3kJPN
chr6:26021013
rs748134309
- 0.0001 -
99_TYR HIS 8.3kJPN
chr6:26250536
rs1331582268
- 0.0001 -
100_LEU PHE 8.3kJPN
chr6:26031986
-
- 0.0002 -
103_LEU PRO 8.3kJPN
chr6:26045949
-
- 0.0001 -
104_PHE LEU gnomAD
chr1:149784922
rs201064709
- 0.00128519 -
104_PHE SER 8.3kJPN
chr6:26225696
-
- 0.0001 -
105_GLU GLY 8.3kJPN
chr1:228612710
rs868727723
- 0.0001 -
106_ASP VAL gnomAD
chr6:27778171
rs139893026
- 0.000369864 -
108_ASN SER VAR_087182 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
108_ASN SER 8.3kJPN
chr6:26045964
-
- 0.0001 -
111_ALA VAL gnomAD
chr12:31944769
rs113082334
- 0.00254881 -
112_ILE LEU VAR_087183 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
112_ILE VAL VAR_087184 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
114_ALA GLY 8.3kJPN
chr1:226259113
rs749423281
- 0.0088 -
114_ALA SER 8.3kJPN
chr6:26250491
-
- 0.0001 -
117_VAL LEU VAR_087185 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
117_VAL ALA gnomAD
chr12:31944751
rs540141669
- 0.00016303 -
117_VAL LEU 8.3kJPN
chr1:149784885
-
- 0.0001 -
119_ILE VAL 8.3kJPN
chr6:26031931
rs1362284538
- 0.0001 -
119_ILE PHE 8.3kJPN
chr6:27778209
-
- 0.0001 -
119_ILE VAL 8.3kJPN
chr6:27858213
-
- 0.0001 -
120_MET ILE VAR_087186 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
120_MET LYS VAR_087187 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
120_MET VAL VAR_087188 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721]
120_MET ILE ClinVar
chr1:226259132
rs2102742562
Pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
120_MET ILE 8.3kJPN
chr6:26250471
-
- 0.0001 -
121_PRO LEU VAR_087189 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
121_PRO ARG VAR_087190 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
121_PRO ARG ClinVar
chr1:226259134
rs1576203003
Pathogenic/Likely pathogenic - Inborn genetic diseases|H3F3A-related disorders [MeSH:D030342,MedGen:C0950123|]
121_PRO ARG ClinVar
chr17:73774722
rs2143629995
Pathogenic - Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721]
121_PRO LEU 8.3kJPN
chr6:26031924
rs990217604
- 0.0001 -
122_LYS ASN gnomAD
chr1:149784868
rs587674278
- 0.00027116 -
122_LYS GLU gnomAD
chr12:31944737
rs112159493
- 0.00278745 -
124_ILE PHE 8.3kJPN
chr6:26021090
rs199573090
- 0.0064 -
124_ILE ASN 8.3kJPN
chr6:26225756
rs751176237
- - -
124_ILE MET 8.3kJPN
chr12:31944729
rs758582920
- 0.0001 -
125_GLN ARG VAR_087191 -
LP/P - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
125_GLN ARG ClinVar
chr1:226259146
rs1276519904
Pathogenic/Likely pathogenic - Inborn genetic diseases|H3F3A-related condition|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MeSH:D030342,MedGen:C0950123||MedGen:C3661900|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
125_GLN ARG ClinVar
chr17:73774710
rs2143629984
Pathogenic/Likely pathogenic - Bryant-Li-Bhoj neurodevelopmental syndrome 2|H3-3B-related condition [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721|]
125_GLN LYS ClinVar
chr17:73774711
-
Likely pathogenic - Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721]
125_GLN PRO gnomAD
chr6:26021094
rs199943654
- 0.000191859 -
126_LEU VAL 8.3kJPN
chr6:26021096
-
- 0.0001 -
126_LEU PHE 8.3kJPN
chr6:27778230
rs751190554
- 0.0001 -
127_ALA SER 8.3kJPN
chr1:149784855
-
- 0.0001 -
127_ALA SER 8.3kJPN
chr6:26021099
-
- 0.0001 -
128_ARG CYS VAR_087192 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
128_ARG HIS VAR_087193 -
US - Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720]
128_ARG HIS ClinVar
chr1:226259155
rs1658121882
Pathogenic/Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720]
128_ARG PRO 8.3kJPN
chr6:26197093
-
- 0.0001 -
129_ARG GLN gnomAD
chr12:31944715
rs147097287
- 0.000214792 -
129_ARG TRP gnomAD
chr12:31944716
rs563955459
- 0.000175009 -
129_ARG CYS 8.3kJPN
chr6:26225770
rs966515186
- 0.0001 -
129_ARG PRO 8.3kJPN
chr6:27839705
-
- 0.0001 -
129_ARG GLN 8.3kJPN
chr12:31944715
rs147097287
- 0.0002 -
130_ILE ASN 8.3kJPN
chr6:26021109
rs764923225
- 0.0001 -
132_GLY TRP 8.3kJPN
chr6:27839697
rs749470205
- 0.0001 -
133_GLU GLN ClinVar
chr6:26021117
rs764264135
Likely pathogenic - Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.