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

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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
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 GLY ClinVar
chr16:226735
rs33986902 Pathogenic, other ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN SWAN RIVER [na]
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 -
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 ClinVar
chr16:226758
rs33964317 Pathogenic not provided [MedGen:CN517202]
15_GLY ARG VAR_002732 rs35816645 Polymorphism -
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 TER ClinVar
chr16:222981
rs281864819 Pathogenic alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
23_GLU GLY VAR_002744 rs33939421 Polymorphism -
23_GLU LYS VAR_002745 rs281864819 Polymorphism -
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 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 -
44_PRO LEU ClinVar
chr16:226966
rs33978134 Pathogenic, other ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN MILLEDGEVILLE [na]
44_PRO ARG VAR_002760 rs281864830 Polymorphism -
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 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]
59_GLY VAL VAR_002779 rs281864846 Polymorphism -
60_LYS ASN VAR_002780 rs281860659 Polymorphism -
61_LYS ASN ClinVar
chr16:223214
rs33985574 Pathogenic, other ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN J (BUDA) [na]
61_LYS THR VAR_002783 rs281865558 Polymorphism -
62_VAL MET VAR_002784 rs41515649 Polymorphism -
63_ALA ASP VAR_002785 rs34502246 Polymorphism -
64_ASP TYR VAR_002786 rs33984024 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 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 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]
92_ARG GLN VAR_002813 rs281864875 Polymorphism -
92_ARG TRP VAR_020775 rs281864876 Polymorphism -
94_ASP TYR VAR_002814 rs281864878 Polymorphism -
94_ASP ALA VAR_025389 rs281864879 Polymorphism -
95_PRO LEU ClinVar
chr16:227119
rs33931314 Likely pathogenic HEMOGLOBIN G (GEORGIA) [na]; not specified [MedGen:CN169374]
95_PRO ALA VAR_002815 rs281864881 Polymorphism -
95_PRO THR VAR_002816 rs281864881 Polymorphism -
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 -
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 TER ClinVar
chr16:223519
rs33987053 Pathogenic alpha Thalassemia [MedGen:C0002312,OMIM:604131,Orphanet:ORPHA846,SNOMED CT:68913001]
116_GLU ALA VAR_002829 rs281864946 Polymorphism -
120_ALA GLU VAR_002833 rs36075744 Polymorphism -
121_VAL MET VAR_002834 rs35187567 Polymorphism -
122_HIS GLN VAR_002835 rs41479347 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]
125_LEU ARG VAR_025391 rs41397847 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]
126_ASP VAL VAR_002837 rs33957766 Polymorphism -
126_ASP GLY VAR_025392 rs33957766 Polymorphism -
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 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]
136_LEU MET VAR_002846 rs41364652 Polymorphism -
136_LEU ARG VAR_035242 rs41469945 Polymorphism -
138_SER PRO VAR_002848 rs63750801 Polymorphism -
139_LYS GLU ClinVar
chr16:223588
rs41361546 Pathogenic, other ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN HANAMAKI [na]
139_LYS THR VAR_002850 rs56348461 Polymorphism -
140_TYR HIS ClinVar
chr16:227402
rs35723200 Pathogenic, other ERYTHROCYTOSIS, FAMILIAL, 7 [MedGen:C4693823,OMIM:617981]; HEMOGLOBIN ETHIOPIA [na]; HEMOGLOBIN ROUEN [na]
140_TYR HIS VAR_002851 rs55870409 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]
141_ARG CYS VAR_002852 rs63750134 Polymorphism -
141_ARG PRO VAR_002855 rs33935328 Polymorphism -