PDB ID 3BIY     CHAIN A
Protein name Histone acetyltransferase p300
Uniprot Accession Q09472
The number of similar proteins 10
The number of binding states 1
The number of binding partners 0

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
3BIY (CHAIN: A)
1 Monomeric state

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  0

Sequence information

1   KFSAKRLPST   RLGTFLENRV   NDFLRRQNHP   ESGEVTVRVV   HASDKTVEVK   50
51   PGMKARFVDS   GEMAESFPYR   TKALFAFEEI   DGVDLCFFGM   HVQEYGSDCP   100
101   PPNQRRVYIS   YLDSVHFFRP   KCLRTAVYHE   ILIGYLEYVK   KLGYTTGHIW   150
151   ACPPSEGDDY   IFHCHPPDQK   IPKPKRLQEW   YKKMLDKAVS   ERIVHDYKDI   200
201   FKQATEDRLT   SAKELPYFEG   DFWPNVLEES   IKELEQEEEE   RKREENTSNE   250
251   STDVTKGDSK   NAKKKNNKKT   SKNKSSLSRG   NKKKPGMPNV   SNDLSQKLYA   300
301   TMEKHKEVFF   VIRLIAGPAA   NSLPPIVDPD   PLIPCDLMDG   RDAFLTLARD   350
351   RHLEFSSLRR   AQWSTGCMLV   ELHTQSQDRF       400

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
1297_ARG TER ClinVar
chr22:41564467
-
Likely pathogenic - not provided [MedGen:CN517202]
1305_ARG PRO ClinVar
chr16:3790511
rs587783488
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1305_ARG TER ClinVar
chr16:3790512
-
Pathogenic - not provided [MedGen:CN517202]
1305_ARG LEU 8.3kJPN
chr22:41564492
-
- 0.0001 -
1311_ARG PRO ClinVar
chr16:3790493
rs1596813665
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1312_ARG TER ClinVar
chr22:41564512
rs1555911075
Pathogenic - not provided [MedGen:CN517202]
1313_GLN TER ClinVar
chr16:3790488
rs587783489
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1324_ARG TER ClinVar
chr16:3790455
rs587783490
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN517202]
1339_MET THR ClinVar
chr22:41564594
rs1064795607
Likely pathogenic - not provided [MedGen:CN517202]
1342_ARG PRO ClinVar
chr16:3790400
rs121434626
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1342_ARG GLN ClinVar
chr16:3790400
rs121434626
Pathogenic - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
1346_SER PHE ClinVar
chr16:3789714
rs149877180
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1355_TYR TER ClinVar
chr22:41564764
rs886043598
Pathogenic - not provided [MedGen:CN517202]
1355_TYR TER ClinVar
chr22:41564764
rs886043598
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1356_ARG LEU ClinVar
chr16:3789684
rs1596812290
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1356_ARG TER ClinVar
chr16:3789685
rs1596812306
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1356_ARG TER ClinVar
chr22:41564765
rs1440862488
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1358_LYS ARG 8.3kJPN
chr22:41564772
-
- 0.0002 -
1359_ALA ASP ClinVar
chr16:3789675
rs1064796948
Likely pathogenic - not provided [MedGen:CN517202]
1373_PHE SER ClinVar
chr16:3789633
rs587783492
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1379_GLN TER ClinVar
chr16:3789616
rs1596812202
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1381_TYR TER ClinVar
chr16:3789608
-
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1385_CYS PHE ClinVar
chr16:3789597
rs200616542
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1390_THR ARG ClinVar
chr16:3789582
rs145988918
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1391_ARG SER ClinVar
chr16:3788673
rs797045494
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1391_ARG SER ClinVar
chr22:41565507
rs1464734494
Likely pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1392_ARG PRO ClinVar
chr16:3788671
rs778448390
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1393_VAL ILE 8.3kJPN
chr22:41565511
-
- 0.0001 -
1394_TYR TER ClinVar
chr16:3788664
rs1596810465
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1397_TYR HIS ClinVar
chr16:3788657
rs1596810435
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1399_ASP ASN ClinVar
chr22:41565529
rs1057519889
Likely pathogenic - Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Medulloblastoma|Neoplasm of uterine cervix|Carcinoma of esophagus [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482]
1399_ASP TYR ClinVar
chr22:41565529
rs1057519889
Likely pathogenic - Medulloblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Squamous cell lung carcinoma|Carcinoma of esophagus [Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482]
1399_ASP TYR ClinVar
chr16:3788651
rs1596810419
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1399_ASP GLU ClinVar
chr16:3788649
rs928061320
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1405_ARG HIS gnomAD
chr22:41565548
rs138855106
- 0.00011556 -
1405_ARG CYS 8.3kJPN
chr22:41565547
rs758324686
- 0.0001 -
1410_ARG LEU ClinVar
chr16:3788617
rs1057519884
Likely pathogenic - Transitional cell carcinoma of the bladder|Neoplasm of uterine cervix|Medulloblastoma|Adenoid cystic carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell lung carcinoma|Glioblastoma|Malignant melanoma of skin [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779]
1410_ARG HIS ClinVar
chr16:3788617
rs1057519884
Likely pathogenic - Transitional cell carcinoma of the bladder|Medulloblastoma|Neoplasm of uterine cervix|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Adenoid cystic carcinoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Glioblastoma [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360]
1410_ARG GLY ClinVar
chr16:3788618
rs398124146
Likely pathogenic - Glioblastoma|Squamous cell carcinoma of the head and neck|Adenoid cystic carcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Medulloblastoma|Hepatocellular carcinoma [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673]
1411_THR ILE ClinVar
chr22:41565566
rs1601633708
Likely pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1411_THR ILE ClinVar
chr16:3788614
rs2151334254
Pathogenic/Likely pathogenic - not provided|Rubinstein-Taybi syndrome [MedGen:C3661900|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1414_TYR HIS ClinVar
chr16:3788606
rs1555473499
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1417_ILE THR ClinVar
chr16:3788596
rs1064795050
Likely pathogenic - not provided [MedGen:CN517202]
1423_GLU GLY ClinVar
chr16:3788578
rs587783494
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1429_GLY GLU ClinVar
chr16:3788560
rs1555473491
Pathogenic - Rubinstein-Taybi syndrome|not provided [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900]
1429_GLY ARG ClinVar
chr16:3788561
rs2052127299
Pathogenic - not provided [MedGen:C3661900]
1430_TYR TER ClinVar
chr16:3786813
rs147688139
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1434_HIS ARG ClinVar
chr16:3786802
rs797044860
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1434_HIS LEU ClinVar
chr22:41566424
-
Pathogenic - not provided [MedGen:C3661900]
1436_TRP TER ClinVar
chr22:41566430
rs893031937
Pathogenic - not provided [MedGen:C3661900]
1437_ALA THR ClinVar
chr16:3786794
rs1596805927
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1440_PRO THR ClinVar
chr22:41566441
-
Likely pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1444_ASP GLY ClinVar
chr16:3786772
rs886041286
Pathogenic/Likely pathogenic - not provided|Rubinstein-Taybi syndrome due to CREBBP mutations [MedGen:CN517202|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1445_ASP GLY ClinVar
chr16:3786769
rs2151329858
Likely pathogenic - not provided [MedGen:C3661900]
1446_TYR CYS ClinVar
chr16:3786766
rs587783496
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1446_TYR ASP ClinVar
chr16:3786767
rs587783495
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1446_TYR CYS ClinVar
chr22:41566460
-
Likely pathogenic - Rare genetic intellectual disability [MedGen:C5680527,Orphanet:183757]
1451_HIS ARG ClinVar
chr16:3786751
rs1596805792
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1455_GLN TER ClinVar
chr22:41566486
rs1555911313
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Inborn genetic diseases [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MeSH:D030342,MedGen:C0950123]
1455_GLN TER ClinVar
chr16:3786740
-
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1458_PRO ARG ClinVar
chr16:3786730
rs398124147
Likely pathogenic - not provided [MedGen:C3661900]
1458_PRO SER ClinVar
chr16:3786731
rs199817036
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1461_LYS THR 8.3kJPN
chr16:3786721
-
- 0.0004 -
1462_ARG GLN ClinVar
chr16:3786718
rs1567269945
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1462_ARG TER ClinVar
chr16:3786719
rs2052070776
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1463_LEU VAL ClinVar
chr16:3786716
rs2052070559
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1464_GLN TER ClinVar
chr22:41566513
rs1601634247
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1467_TYR CYS ClinVar
chr16:3786703
rs587783497
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1467_TYR TER ClinVar
chr16:3786702
rs1555473105
Pathogenic - not provided [MedGen:CN517202]
1471_LEU PRO ClinVar
chr16:3786691
rs1057520191
Likely pathogenic - not provided [MedGen:CN517202]
1484_LYS ARG ClinVar
chr16:3786652
rs1596805575
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1489_GLN TER ClinVar
chr22:41568515
-
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1495_LEU TER ClinVar
chr22:41568534
rs2059176668
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]
1502_PRO LEU ClinVar
chr16:3786152
rs1596804126
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1503_TYR ASN ClinVar
chr16:3786150
-
Likely pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1504_PHE CYS ClinVar
chr22:41568561
rs1114167306
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1505_GLU TER ClinVar
chr22:41568563
-
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1511_ASN ILE VAR_074021 -
LB/B - -
1514_GLU GLN ClinVar
chr22:41568590
-
Likely pathogenic - not provided [MedGen:CN517202]
1518_LYS TER ClinVar
chr16:3786105
rs1567269316
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1519_GLU TER ClinVar
chr16:3786102
rs1555472931
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1588_MET THR ClinVar
chr22:41569772
rs1057521737
Pathogenic/Likely pathogenic - not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783]
1595_PHE VAL ClinVar
chr22:41572254
rs1057517732
Pathogenic/Likely pathogenic - not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Multiple congenital anomalies|Inborn genetic diseases|EP300-related condition [MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MedGen:C0000772|MeSH:D030342,MedGen:C0950123|]
1595_PHE ILE ClinVar
chr22:41572254
rs1057517732
Pathogenic - Colorectal cancer [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
1600_LEU VAL gnomAD
chr22:41572269
rs140154690
- 0.00193843 -
1606_ALA VAL 8.3kJPN
chr22:41572288
rs754513034
- 0.0002 -
1627_ARG HIS ClinVar
chr16:3781374
rs1596791996
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:C3661900]
1627_ARG LEU ClinVar
chr16:3781374
rs1596791996
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1633_LEU ARG ClinVar
chr22:41572369
-
Likely pathogenic - Menke-Hennekam syndrome 2 [MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333]
1633_LEU VAL 8.3kJPN
chr22:41572368
-
- 0.0001 -
1635_ARG TER ClinVar
chr16:3781351
rs1555471874
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1639_TRP TER ClinVar
chr16:3781338
rs797045495
Pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1639_TRP TER ClinVar
chr16:3781337
rs2051909999
Pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1644_LEU PHE 8.3kJPN
chr22:41572401
rs773501564
- 0.0002 -
1645_ARG TER ClinVar
chr22:41572404
rs139310551
Pathogenic - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|EP300-related disorders [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|]
1647_SER PRO ClinVar
chr16:3781315
rs587783503
Likely pathogenic - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1650_SER TYR VAR_014430 -
US - A pancreatic cancer sample
1650_SER PRO ClinVar
chr16:3781306
rs61731407
Likely pathogenic - Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783]
1650_SER PHE ClinVar
chr16:3781305
rs2151316542
Likely pathogenic - Rubinstein-Taybi syndrome|Menke-Hennekam syndrome 1 [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332]; Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
1656_VAL ALA 8.3kJPN
chr22:41572438
-
- 0.0004 -
(Powered by wupsivus)

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.