PDB ID 1A00     CHAIN A
Protein name HEMOGLOBIN (ALPHA CHAIN)
Uniprot Accession P69905
The number of similar proteins 437
The number of binding states 14
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer

#binding
partners
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   VLSPADKTNV   KAAWGKVGAH   AGEYGAEALE   RMFLSFPTTK   TYFPHFDLSH   50
51   GSAQVKGHGK   KVADALTNAV   AHVDDMPNAL   SALSDLHAHK   LRVDPVNFKL   100
101   LSHCLLVTLA   AHLPAEFTPA   VHASLDKFLA   SVSTVLTSKY   R   150

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
1_VAL GLU VAR_002719 rs33981821
Polymorphism - -
2_LEU ARG VAR_002720 rs36030576
Polymorphism - -
5_ALA ASP VAR_002721 rs34090856
Polymorphism - -
5_ALA PRO VAR_002722 rs34751764
Polymorphism - -
6_ASP ALA VAR_002723 rs33986902
Polymorphism - -
6_ASP GLY VAR_002724 rs281864805
Polymorphism - -
6_ASP ASN VAR_002725 rs33961916
Polymorphism - -
6_ASP VAL VAR_002726 rs281864805
Polymorphism - -
6_ASP TYR VAR_002727 rs281864806
Polymorphism - -
6_ASP GLY ClinVar
chr16:226735
rs33986902
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN SWAN RIVER [na]
7_LYS GLU VAR_002728 rs34817956
Polymorphism - -
9_ASN THR VAR_038149 rs281860608
Polymorphism - -
11_LYS GLU VAR_002729 rs33938574
Polymorphism - -
12_ALA ASP VAR_002730 rs35615982
Polymorphism - -
13_ALA PRO VAR_038150 rs35331909
Polymorphism - -
14_TRP ARG VAR_002731 rs33964317
Polymorphism - -
14_TRP ARG ClinVar
chr16:226758
rs33964317
Pathogenic - not provided [MedGen:CN517202]
15_GLY ARG VAR_002732 rs35816645
Polymorphism - -
15_GLY SER 4.7kJPN
chr16:222957
rs281864811
- 0.0001 -
15_GLY SER 4.7kJPN
chr16:226761
rs35816645
- 0.0003 -
16_LYS MET VAR_002733 rs35210126
Polymorphism - -
16_LYS ASN VAR_002734 rs281860648
Polymorphism - -
18_GLY ASP VAR_002735 rs35993097
Polymorphism - -
18_GLY ARG VAR_002736 rs34504387
Polymorphism - -
19_ALA ASP VAR_002737 -
Unclassified - -
19_ALA GLU VAR_002738 rs35628685
Polymorphism - -
20_HIS GLN VAR_002739 rs41525149
Polymorphism - -
20_HIS ARG VAR_002740 rs33943087
Polymorphism - -
21_ALA ASP VAR_002741 rs11548605
Polymorphism - -
21_ALA PRO VAR_002742 rs34324664
Polymorphism - -
22_GLY ASP VAR_002743 rs34608326
Polymorphism - -
23_GLU GLY VAR_002744 rs33939421
Polymorphism - -
23_GLU LYS VAR_002745 rs281864819
Polymorphism - -
23_GLU TER ClinVar
chr16:222981
rs281864819
Pathogenic - alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
24_TYR HIS VAR_002746 rs281864821
Polymorphism - -
26_ALA GLU VAR_002747 rs281864822
Polymorphism - -
26_ALA VAL VAR_025387 rs281864822
Polymorphism - -
27_GLU ASP VAR_002748 rs281865556
Polymorphism - -
27_GLU GLY VAR_002749 rs281864823
Polymorphism - -
27_GLU VAL VAR_002750 rs281864823
Polymorphism - -
29_LEU PRO ClinVar
chr16:223000
rs41341344
Pathogenic, other - HEMOGLOBIN AGRINIO [na]; Hemoglobin H disease, nondeletional [MedGen:CN077787]
30_GLU LYS VAR_002751 rs111033605
Polymorphism - -
31_ARG SER VAR_002752 rs111033606
Polymorphism - -
31_ARG LYS VAR_025002 rs281864543
Polymorphism - -
34_LEU ARG VAR_002753 rs281864825
Polymorphism - -
37_PRO ARG VAR_002754 rs281864826
Polymorphism - -
40_LYS MET VAR_002756 rs281864828
Polymorphism - -
40_LYS MET ClinVar
chr16:223150
rs281864828
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN KANAGAWA [na]
41_THR SER VAR_002757 rs281860623
Polymorphism - -
43_PHE LEU VAR_002758 rs41491146
Polymorphism - -
43_PHE LEU 4.7kJPN
chr16:223160
rs41491146
- 0.0001 -
44_PRO LEU VAR_002759 rs33978134
Polymorphism - -
44_PRO ARG VAR_002760 rs281864830
Polymorphism - -
44_PRO LEU ClinVar
chr16:226966
rs33978134
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN MILLEDGEVILLE [na]
45_HIS GLN VAR_002761 rs281860624
Polymorphism - -
45_HIS ARG VAR_002762 rs281864831
Polymorphism - -
47_ASP ALA VAR_002763 rs281864833
Polymorphism - -
47_ASP GLY VAR_002764 rs281864833
Polymorphism - -
47_ASP HIS VAR_002765 rs281864834
Polymorphism - -
47_ASP TYR VAR_002766 rs281864834
Polymorphism - -
48_LEU ARG VAR_002767 rs41392146
Polymorphism - -
49_SER ARG VAR_002768 rs41518249
Polymorphism - -
50_HIS ARG VAR_002769 rs281864835
Polymorphism - -
51_GLY ASP VAR_002770 rs281864836
Polymorphism - -
51_GLY ARG VAR_002771 rs281864837
Polymorphism - -
53_ALA ASP VAR_002772 rs281864838
Polymorphism - -
54_GLN ARG VAR_002773 rs281864839
Polymorphism - -
56_LYS ARG VAR_002774 rs281864841
Polymorphism - -
56_LYS THR VAR_002775 rs281864841
Polymorphism - -
57_GLY ARG VAR_002776 rs281864843
Polymorphism - -
58_HIS TYR VAR_002777 rs281864845
Polymorphism - -
58_HIS GLN VAR_025388 rs41378349
Polymorphism - -
59_GLY ASP VAR_002778 rs28928878
Polymorphism - -
59_GLY VAL VAR_002779 rs281864846
Polymorphism - -
59_GLY ARG ClinVar
chr16:223206
rs41328049
Pathogenic, other - Alpha plus thalassemia [MedGen:C1456873]; HEMOGLOBIN ZURICH ALBISRIEDEN [na]
59_GLY ASP ClinVar
chr16:227011
rs28928878
Pathogenic, other - HEMOGLOBIN ADANA [na]; Hemoglobin H disease, nondeletional [MedGen:CN077787]
59_GLY ASP ClinVar
chr16:223207
rs281864846
Pathogenic - not provided [MedGen:CN517202]
60_LYS ASN VAR_002780 rs281860659
Polymorphism - -
61_LYS ASN VAR_002782 rs33985574
Polymorphism - -
61_LYS THR VAR_002783 rs281865558
Polymorphism - -
61_LYS ASN ClinVar
chr16:223214
rs33985574
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN J (BUDA) [na]
62_VAL MET VAR_002784 rs41515649
Polymorphism - -
63_ALA ASP VAR_002785 rs34502246
Polymorphism - -
64_ASP TYR VAR_002786 rs33984024
Polymorphism - -
68_ASN LYS VAR_002787 rs1060339
Polymorphism - -
68_ASN LYS ClinVar
chr16:223235
rs111033601
Likely pathogenic - alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]; not provided [MedGen:CN517202]
68_ASN LYS ClinVar
chr16:227039
rs1060339
Pathogenic - alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
68_ASN LYS ClinVar
chr16:227039
rs1060339
Likely pathogenic - not provided [MedGen:CN517202]
71_ALA GLU VAR_002788 rs281864853
Polymorphism - -
71_ALA VAL VAR_002789 rs281864853
Polymorphism - -
72_HIS ARG VAR_002790 rs281864854
Polymorphism - -
74_ASP ALA VAR_002791 rs281864856
Polymorphism - -
74_ASP GLY VAR_002792 rs33921047
Polymorphism - -
74_ASP ASN VAR_002793 rs281864857
Polymorphism - -
75_ASP ALA VAR_002794 rs33991223
Polymorphism - -
75_ASP HIS VAR_002795 rs281864858
Polymorphism - -
76_MET LYS VAR_002796 rs33969953
Polymorphism - -
76_MET THR VAR_002797 rs33969953
Polymorphism - -
77_PRO ARG VAR_002798 rs281864861
Polymorphism - -
78_ASN HIS VAR_002799 rs111033602
Polymorphism - -
78_ASN LYS VAR_002800 rs281860607
Polymorphism - -
79_ALA GLY VAR_012662 rs281860603
Polymorphism - -
80_LEU ARG VAR_002801 rs281864863
Polymorphism - -
81_SER CYS VAR_002802 rs281864864
Polymorphism - -
82_ALA ASP VAR_002803 rs281864865
Polymorphism - -
84_SER ARG VAR_002804 rs281860612
Polymorphism - -
85_ASP VAL VAR_002805 rs41331747
Polymorphism - -
85_ASP TYR VAR_002806 rs281864777
Polymorphism - -
86_LEU ARG VAR_002807 rs281864866
Polymorphism - -
87_HIS ASN VAR_002808 rs281864868
Polymorphism - -
87_HIS ARG VAR_002809 rs281864867
Polymorphism - -
88_ALA SER VAR_002810 rs35239527
Polymorphism - -
88_ALA VAL ClinVar
chr16:223294
rs33983416
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN COLUMBIA MISSOURI [na]
88_ALA SER ClinVar
chr16:227097
rs35239527
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN LOIRE [na]
90_LYS MET VAR_002811 rs281864873
Polymorphism - -
91_LEU PRO VAR_002812 rs281864874
Polymorphism - -
91_LEU PHE VAR_049272 rs281864494
Polymorphism - -
92_ARG GLN VAR_002813 rs281864875
Polymorphism - -
92_ARG TRP VAR_020775 rs281864876
Polymorphism - -
92_ARG LEU ClinVar
chr16:227110
rs33991779
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN CHESAPEAKE [na]
92_ARG GLN ClinVar
chr16:227110
rs33991779
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN J (CAPE TOWN) [na]
94_ASP TYR VAR_002814 rs281864878
Polymorphism - -
94_ASP ALA VAR_025389 rs281864879
Polymorphism - -
95_PRO ALA VAR_002815 rs281864881
Polymorphism - -
95_PRO THR VAR_002816 rs281864881
Polymorphism - -
95_PRO LEU ClinVar
chr16:227119
rs33931314
Likely pathogenic - HEMOGLOBIN G (GEORGIA) [na]; not specified [MedGen:CN169374]
97_ASN LYS VAR_002817 rs41338947
Polymorphism - -
99_LYS GLU VAR_002818 rs281864882
Polymorphism - -
102_SER ARG VAR_002819 rs41344646
Polymorphism - -
103_HIS ARG VAR_002820 rs63750752
Polymorphism - -
103_HIS TYR VAR_025390 rs63750073
Polymorphism - -
104_CYS TYR ClinVar
chr16:223484
rs41417548
Pathogenic, other - HEMOGLOBIN SALLANCHES [na]; Hemoglobin H disease, nondeletional [MedGen:CN077787]
108_THR ASN ClinVar
chr16:223496
rs63750010
Likely pathogenic - not provided [MedGen:CN517202]
109_LEU ARG VAR_002821 rs41479844
Polymorphism - -
110_ALA ASP VAR_002822 rs28928889
Polymorphism - -
112_HIS ASP VAR_002823 rs281864885
Polymorphism - -
112_HIS PRO 4.7kJPN
chr16:227319
-
- 0.0007 -
113_LEU HIS VAR_002824 rs281860618
Polymorphism - -
114_PRO LEU VAR_002825 rs267607269
Polymorphism - -
114_PRO ARG VAR_002826 rs267607269
Polymorphism - -
114_PRO SER VAR_002827 rs281864887
Polymorphism - -
115_ALA ASP VAR_002828 rs281864888
Polymorphism - -
116_GLU ALA VAR_002829 rs281864946
Polymorphism - -
116_GLU TER ClinVar
chr16:223519
rs33987053
Pathogenic - alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
120_ALA GLU VAR_002833 rs36075744
Polymorphism - -
121_VAL MET VAR_002834 rs35187567
Polymorphism - -
121_VAL ALA 4.7kJPN
chr16:227346
rs775764044
- 0.0005 -
122_HIS GLN VAR_002835 rs41479347
Polymorphism - -
125_LEU PRO VAR_002836 rs41397847
Polymorphism - -
125_LEU ARG VAR_025391 rs41397847
Polymorphism - -
125_LEU PRO ClinVar
chr16:223547
rs41397847
Pathogenic, other - Hemoglobin Quong Sze [MedGen:C0164294,SNOMED CT:43687002]; alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
126_ASP VAL VAR_002837 rs33957766
Polymorphism - -
126_ASP TYR VAR_002838 rs33933481
Polymorphism - -
126_ASP GLY VAR_025392 rs33957766
Polymorphism - -
126_ASP HIS ClinVar
chr16:227360
rs63750950
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN SASSARI [na]
126_ASP TYR ClinVar
chr16:223549
rs33933481
Pathogenic - not provided [MedGen:CN517202]
127_LYS ASN VAR_002839 rs33972894
Polymorphism - -
129_LEU PRO VAR_002840 rs281864889
Polymorphism - -
130_ALA PRO VAR_002841 rs41529844
Polymorphism - -
130_ALA ASP VAR_002842 rs41528545
Polymorphism - -
131_SER PRO VAR_002843 rs63751417
Polymorphism - -
133_SER ARG VAR_002844 rs56308100
Polymorphism - -
135_VAL GLU VAR_002845 rs63749809
Polymorphism - -
136_LEU MET VAR_002846 rs41364652
Polymorphism - -
136_LEU PRO VAR_002847 rs41469945
Polymorphism - -
136_LEU ARG VAR_035242 rs41469945
Polymorphism - -
136_LEU PRO ClinVar
chr16:223580
rs41469945
Pathogenic - Anemia [Human Phenotype Ontology:HP:0001903,MedGen:C0002871,Orphanet:ORPHA108997]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330]; Splenomegaly [Human Phenotype Ontology:HP:0001744,MedGen:C0038002]
136_LEU ARG ClinVar
chr16:227391
rs34635364
Pathogenic, other - HEMOGLOBIN TOYAMA [na]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330]
138_SER PRO VAR_002848 rs63750801
Polymorphism - -
139_LYS GLU VAR_002849 rs41361546
Polymorphism - -
139_LYS THR VAR_002850 rs56348461
Polymorphism - -
139_LYS GLU ClinVar
chr16:223588
rs41361546
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN HANAMAKI [na]
140_TYR HIS VAR_002851 rs55870409
Polymorphism - -
140_TYR HIS ClinVar
chr16:227402
rs35723200
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN ETHIOPIA [na]; HEMOGLOBIN ROUEN [na]
141_ARG CYS VAR_002852 rs63750134
Polymorphism - -
141_ARG LEU VAR_002853 rs33935328
Polymorphism - -
141_ARG HIS VAR_002854 rs33935328
Polymorphism - -
141_ARG PRO VAR_002855 rs33935328
Polymorphism - -
141_ARG LEU ClinVar
chr16:227406
rs33935328
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN LEGNANO [na]
141_ARG CYS ClinVar
chr16:227405
rs33991910
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN NUNOBIKI [na]
141_ARG HIS ClinVar
chr16:227406
rs33935328
Pathogenic, other - ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN SURESNES [na]
(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.