| PDB ID | 1A00
|
CHAIN | A |
|---|---|---|---|
| Protein name | HEMOGLOBIN (ALPHA CHAIN) | ||
| Uniprot Accession | P69905 | ||
| The number of similar proteins | 529 | ||
| The number of binding states | 16 | ||
| The number of binding partners | 8 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1A00 (CHAIN: A) | |
| 1 |
P68871
P68871
P69905
|
| 2 |
P68871
|
| 3 |
Q6G8J7
|
| 4 |
Q9NZD4
|
| 5 |
P68871
P68871
|
| 6 |
Q6G8J7
Q9NZD4
|
| 7 |
P68871
Q8NW39
|
| 8 |
P68871
P00738
|
| 9 |
P68871
Q2FG07
|
| 10 |
P68871
F0EX68
|
| 11 |
P68871
P68871
Q2FG07
|
| 12 |
P68871
P00738
Q99TD3
|
| 13 |
P68871
A0A0E8IWL6
P00738
|
| 14 |
P68871
P68871
P69905
G0UVW6
|
| 15 |
P69905
P68871
P68871
A0A1K8PKR3
|
| 16 |
P68871
P68871
P69905
B0LFQ8
|
Downdload
Molecule viewer
|
Only interaction residues |
|
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|
Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 1_VAL | GLU | VAR_002719 |
rs33981821
|
LB/B | - | - | |
| 2_LEU | ARG | VAR_002720 |
rs36030576
|
LB/B | - | - | |
| 5_ALA | ASP | VAR_002721 |
rs34090856
|
LB/B | - | - | |
| 5_ALA | PRO | VAR_002722 |
rs34751764
|
LB/B | - | - | |
| 6_ASP | ALA | VAR_002723 |
rs33986902
|
LB/B | - | - | |
| 6_ASP | GLY | VAR_002724 |
rs281864805
|
LB/B | - | - | |
| 6_ASP | ASN | VAR_002725 |
rs33961916
|
LB/B | - | - | |
| 6_ASP | VAL | VAR_002726 |
rs281864805
|
LB/B | - | - | |
| 6_ASP | TYR | VAR_002727 |
rs281864806
|
LB/B | - | - | |
| 7_LYS | GLU | VAR_002728 |
rs34817956
|
LB/B | - | - | |
| 9_ASN | THR | VAR_038149 |
rs281860608
|
LB/B | - | - | |
| 9_ASN | SER |
gnomAD chr16:226744 |
rs281860650
|
- | 0.000118576 | - | |
| 11_LYS | GLU | VAR_002729 |
rs33938574
|
LB/B | - | - | |
| 12_ALA | ASP | VAR_002730 |
rs35615982
|
LB/B | - | - | |
| 13_ALA | PRO | VAR_038150 |
rs35331909
|
LB/B | - | - | |
| 14_TRP | ARG | VAR_002731 |
rs33964317
|
LB/B | - | - | |
| 14_TRP | ARG |
ClinVar chr16:226758 |
rs33964317
|
Pathogenic/Likely pathogenic | - | not provided|alpha Thalassemia [MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 14_TRP | TER |
ClinVar chr16:226760 |
rs1596573335
|
Pathogenic | - | not specified [MedGen:CN169374] | |
| 14_TRP | TER |
ClinVar chr16:222956 |
rs63750367
|
Pathogenic | - | not provided [MedGen:C3661900] | |
| 14_TRP | ARG |
gnomAD chr16:226758 |
rs33964317
|
- | 0.000168306 | - | |
| 15_GLY | ARG | VAR_002732 |
rs35816645
|
LB/B | - | - | |
| 15_GLY | CYS |
ClinVar chr16:222957 |
rs281864811
|
Likely pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 15_GLY | SER |
8.3kJPN chr16:222957 |
rs281864811
|
- | 0.0002 | - | |
| 15_GLY | SER |
8.3kJPN chr16:226761 |
rs35816645
|
- | 0.0004 | - | |
| 16_LYS | MET | VAR_002733 |
rs35210126
|
LB/B | - | - | |
| 16_LYS | ASN | VAR_002734 |
rs281860648
|
LB/B | - | - | |
| 18_GLY | ASP | VAR_002735 |
rs35993097
|
LB/B | - | - | |
| 18_GLY | ARG | VAR_002736 |
rs34504387
|
LB/B | - | - | |
| 19_ALA | ASP | VAR_002737 |
-
|
US | - | - | |
| 19_ALA | GLU | VAR_002738 |
rs35628685
|
LB/B | - | - | |
| 20_HIS | GLN | VAR_002739 |
rs41525149
|
LB/B | - | - | |
| 20_HIS | ARG | VAR_002740 |
rs33943087
|
LB/B | - | - | |
| 21_ALA | ASP | VAR_002741 |
rs11548605
|
LB/B | - | - | |
| 21_ALA | PRO | VAR_002742 |
rs34324664
|
LB/B | - | - | |
| 22_GLY | ASP | VAR_002743 |
rs34608326
|
LB/B | - | - | |
| 22_GLY | GLY |
ClinVar chr16:222980 |
rs63751457
|
Likely pathogenic | - | Alpha-thalassemia, Dutch type|not provided|not specified|alpha Thalassemia [MedGen:C1456873|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 23_GLU | GLY | VAR_002744 |
rs33939421
|
LB/B | - | - | |
| 23_GLU | LYS | VAR_002745 |
rs281864819
|
LB/B | - | - | |
| 23_GLU | TER |
ClinVar chr16:222981 |
rs281864819
|
Likely pathogenic | - | alpha Thalassemia|not provided [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:CN517202] | |
| 24_TYR | HIS | VAR_002746 |
rs281864821
|
LB/B | - | - | |
| 24_TYR | TER |
ClinVar chr16:222986 |
rs281864550
|
Pathogenic | - | alpha Thalassemia|not provided [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900] | |
| 24_TYR | ASP |
ClinVar chr16:222984 |
rs281864821
|
Pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 26_ALA | GLU | VAR_002747 |
rs281864822
|
LB/B | - | - | |
| 26_ALA | VAL | VAR_025387 |
rs281864822
|
LB/B | - | - | |
| 27_GLU | ASP | VAR_002748 |
rs281865556
|
LB/B | - | - | |
| 27_GLU | GLY | VAR_002749 |
rs281864823
|
LB/B | - | - | |
| 27_GLU | VAL | VAR_002750 |
rs281864823
|
LB/B | - | - | |
| 29_LEU | PRO |
ClinVar chr16:223000 |
rs41341344
|
Pathogenic | - | HEMOGLOBIN AGRINIO|Hemoglobin H disease, nondeletional|not provided [|MedGen:C3279561|MedGen:C3661900] | |
| 30_GLU | LYS | VAR_002751 |
rs111033605
|
LB/B | - | - | |
| 31_ARG | SER | VAR_002752 |
rs111033606
|
LB/B | - | - | |
| 31_ARG | LYS | VAR_025002 |
rs281864543
|
LB/B | - | - | |
| 32_MET | ILE |
ClinVar chr16:223127 |
rs41515552
|
Pathogenic | - | not provided|HBA2-related condition [MedGen:C3661900|] | |
| 34_LEU | ARG | VAR_002753 |
rs281864825
|
LB/B | - | - | |
| 35_SER | PRO |
ClinVar chr16:223134 |
rs63750776
|
Likely pathogenic | - | not provided|HEMOGLOBIN H HYDROPS FETALIS SYNDROME [MedGen:CN517202|MedGen:C3278365] | |
| 37_PRO | ARG | VAR_002754 |
rs281864826
|
LB/B | - | - | |
| 40_LYS | MET | VAR_002756 |
rs281864828
|
LB/B | - | - | |
| 40_LYS | MET |
ClinVar chr16:223150 |
rs281864828
|
Pathogenic; other | - | HEMOGLOBIN KANAGAWA|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 41_THR | SER | VAR_002757 |
rs281860623
|
LB/B | - | - | |
| 43_PHE | LEU | VAR_002758 |
rs41491146
|
LB/B | - | - | |
| 43_PHE | VAL |
ClinVar chr16:223158 |
-
|
Pathogenic | - | not provided [MedGen:CN517202] | |
| 43_PHE | LEU |
8.3kJPN chr16:223160 |
rs41491146
|
- | 0.0001 | - | |
| 44_PRO | LEU | VAR_002759 |
rs33978134
|
LB/B | - | - | |
| 44_PRO | ARG | VAR_002760 |
rs281864830
|
LB/B | - | - | |
| 44_PRO | LEU |
ClinVar chr16:226966 |
rs33978134
|
Likely pathogenic | - | HEMOGLOBIN MILLEDGEVILLE|Erythrocytosis, familial, 7|not provided [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:CN517202] | |
| 45_HIS | GLN | VAR_002761 |
rs281860624
|
LB/B | - | - | |
| 45_HIS | ARG | VAR_002762 |
rs281864831
|
LB/B | - | - | |
| 47_ASP | ALA | VAR_002763 |
rs281864833
|
LB/B | - | - | |
| 47_ASP | GLY | VAR_002764 |
rs281864833
|
LB/B | - | - | |
| 47_ASP | HIS | VAR_002765 |
rs281864834
|
LB/B | - | - | |
| 47_ASP | TYR | VAR_002766 |
rs281864834
|
LB/B | - | - | |
| 48_LEU | ARG | VAR_002767 |
rs41392146
|
LB/B | - | - | |
| 49_SER | ARG | VAR_002768 |
rs41518249
|
LB/B | - | - | |
| 50_HIS | ARG | VAR_002769 |
rs281864835
|
LB/B | - | - | |
| 50_HIS | ASN |
8.3kJPN chr16:223179 |
-
|
- | 0.0001 | - | |
| 50_HIS | ASN |
8.3kJPN chr16:226983 |
-
|
- | 0.0001 | - | |
| 51_GLY | ASP | VAR_002770 |
rs281864836
|
LB/B | - | - | |
| 51_GLY | ARG | VAR_002771 |
rs281864837
|
LB/B | - | - | |
| 51_GLY | SER |
gnomAD chr16:226986 |
rs33960522
|
- | 0.00027975 | - | |
| 53_ALA | ASP | VAR_002772 |
rs281864838
|
LB/B | - | - | |
| 54_GLN | ARG | VAR_002773 |
rs281864839
|
LB/B | - | - | |
| 54_GLN | TER |
ClinVar chr16:223191 |
rs281864840
|
Pathogenic/Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 56_LYS | ARG | VAR_002774 |
rs281864841
|
LB/B | - | - | |
| 56_LYS | THR | VAR_002775 |
rs281864841
|
LB/B | - | - | |
| 57_GLY | ARG | VAR_002776 |
rs281864843
|
LB/B | - | - | |
| 58_HIS | TYR | VAR_002777 |
rs281864845
|
LB/B | - | - | |
| 58_HIS | GLN | VAR_025388 |
rs41378349
|
LB/B | - | - | |
| 59_GLY | ASP | VAR_002778 |
rs28928878
|
LB/B | - | - | |
| 59_GLY | VAL | VAR_002779 |
rs281864846
|
LB/B | - | - | |
| 59_GLY | ARG |
ClinVar chr16:223206 |
rs41328049
|
Likely pathogenic | - | HEMOGLOBIN ZURICH ALBISRIEDEN|Alpha-thalassemia, Dutch type|alpha Thalassemia|not provided [|MedGen:C1456873|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900] | |
| 59_GLY | ASP |
ClinVar chr16:227011 |
rs28928878
|
Pathogenic | - | HEMOGLOBIN ADANA|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia [|MedGen:C3279561|MedGen:CN517202|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 59_GLY | ASP |
ClinVar chr16:223207 |
rs281864846
|
Pathogenic | - | not provided|HEMOGLOBIN H HYDROPS FETALIS SYNDROME|Non-immune hydrops fetalis|alpha Thalassemia [MedGen:C3661900|MedGen:C3278365|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 59_GLY | ARG |
ClinVar chr16:227010 |
rs281864895
|
Pathogenic | - | not provided|alpha Thalassemia [MedGen:CN517202|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 60_LYS | ASN | VAR_002780 |
rs281860659
|
LB/B | - | - | |
| 61_LYS | ASN | VAR_002782 |
rs33985574
|
LB/B | - | - | |
| 61_LYS | THR | VAR_002783 |
rs281865558
|
LB/B | - | - | |
| 61_LYS | ASN |
ClinVar chr16:223214 |
rs33985574
|
Pathogenic; other | - | HEMOGLOBIN J (BUDA)|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 62_VAL | MET | VAR_002784 |
rs41515649
|
LB/B | - | - | |
| 63_ALA | ASP | VAR_002785 |
rs34502246
|
LB/B | - | - | |
| 64_ASP | TYR | VAR_002786 |
rs33984024
|
LB/B | - | - | |
| 68_ASN | LYS | VAR_002787 |
rs1060339
|
LB/B | - | - | |
| 71_ALA | GLU | VAR_002788 |
rs281864853
|
LB/B | - | - | |
| 71_ALA | VAL | VAR_002789 |
rs281864853
|
LB/B | - | - | |
| 72_HIS | ARG | VAR_002790 |
rs281864854
|
LB/B | - | - | |
| 74_ASP | ALA | VAR_002791 |
rs281864856
|
LB/B | - | - | |
| 74_ASP | GLY | VAR_002792 |
rs33921047
|
LB/B | - | - | |
| 74_ASP | ASN | VAR_002793 |
rs281864857
|
LB/B | - | - | |
| 75_ASP | ALA | VAR_002794 |
rs33991223
|
LB/B | - | - | |
| 75_ASP | HIS | VAR_002795 |
rs281864858
|
LB/B | - | - | |
| 76_MET | LYS | VAR_002796 |
rs33969953
|
LB/B | - | - | |
| 76_MET | THR | VAR_002797 |
rs33969953
|
LB/B | - | - | |
| 77_PRO | ARG | VAR_002798 |
rs281864861
|
LB/B | - | - | |
| 78_ASN | HIS | VAR_002799 |
rs111033602
|
LB/B | - | - | |
| 78_ASN | LYS | VAR_002800 |
rs281860607
|
LB/B | - | - | |
| 79_ALA | GLY | VAR_012662 |
rs281860603
|
LB/B | - | - | |
| 80_LEU | ARG | VAR_002801 |
rs281864863
|
LB/B | - | - | |
| 80_LEU | ARG |
ClinVar chr16:223270 |
rs281864863
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 81_SER | CYS | VAR_002802 |
rs281864864
|
LB/B | - | - | |
| 82_ALA | ASP | VAR_002803 |
rs281864865
|
LB/B | - | - | |
| 84_SER | ARG | VAR_002804 |
rs281860612
|
LB/B | - | - | |
| 85_ASP | VAL | VAR_002805 |
rs41331747
|
LB/B | - | - | |
| 85_ASP | TYR | VAR_002806 |
rs281864777
|
LB/B | - | - | |
| 86_LEU | ARG | VAR_002807 |
rs281864866
|
LB/B | - | - | |
| 87_HIS | ASN | VAR_002808 |
rs281864868
|
LB/B | - | - | |
| 87_HIS | ARG | VAR_002809 |
rs281864867
|
LB/B | - | - | |
| 87_HIS | TYR |
ClinVar chr16:227094 |
rs28928876
|
Pathogenic | - | HEMOGLOBIN M (IWATE)|HEMOGLOBIN M (OLDENBURG)|HEMOGLOBIN M (KANKAKEE)|HEMOGLOBIN M (SENDAI)|Methemoglobinemia, alpha type [||||MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973] | |
| 87_HIS | GLN |
ClinVar chr16:227096 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
| 88_ALA | SER | VAR_002810 |
rs35239527
|
LB/B | - | - | |
| 88_ALA | VAL |
ClinVar chr16:223294 |
rs33983416
|
Pathogenic; other | - | HEMOGLOBIN COLUMBIA MISSOURI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 88_ALA | SER |
ClinVar chr16:227097 |
rs35239527
|
Pathogenic; other | - | HEMOGLOBIN LOIRE|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 90_LYS | MET | VAR_002811 |
rs281864873
|
LB/B | - | - | |
| 91_LEU | PRO | VAR_002812 |
rs281864874
|
LB/B | - | - | |
| 91_LEU | PHE | VAR_049272 |
rs281864494
|
LB/B | - | - | |
| 92_ARG | GLN | VAR_002813 |
rs281864875
|
LB/B | - | - | |
| 92_ARG | TRP | VAR_020775 |
rs281864876
|
LB/B | - | - | |
| 92_ARG | LEU |
ClinVar chr16:227110 |
rs33991779
|
Pathogenic; other | - | HEMOGLOBIN CHESAPEAKE|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 92_ARG | GLN |
ClinVar chr16:227110 |
rs33991779
|
Pathogenic; other | - | HEMOGLOBIN J (CAPE TOWN)|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 94_ASP | TYR | VAR_002814 |
rs281864878
|
LB/B | - | - | |
| 94_ASP | ALA | VAR_025389 |
rs281864879
|
LB/B | - | - | |
| 94_ASP | ASN |
ClinVar chr16:223311 |
rs281864878
|
Pathogenic | - | not provided [MedGen:C3661900] | |
| 94_ASP | TYR |
ClinVar chr16:223311 |
rs281864878
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 95_PRO | ALA | VAR_002815 |
rs281864881
|
LB/B | - | - | |
| 95_PRO | THR | VAR_002816 |
rs281864881
|
LB/B | - | - | |
| 95_PRO | LEU |
ClinVar chr16:227119 |
rs33931314
|
Likely pathogenic | - | HEMOGLOBIN G (GEORGIA)|not specified [|MedGen:CN169374] | |
| 96_VAL | ILE |
8.3kJPN chr16:223317 |
rs281864559
|
- | 0.0001 | - | |
| 97_ASN | LYS | VAR_002817 |
rs41338947
|
LB/B | - | - | |
| 99_LYS | GLU | VAR_002818 |
rs281864882
|
LB/B | - | - | |
| 102_SER | ARG | VAR_002819 |
rs41344646
|
LB/B | - | - | |
| 103_HIS | ARG | VAR_002820 |
rs63750752
|
LB/B | - | - | |
| 103_HIS | TYR | VAR_025390 |
rs63750073
|
LB/B | - | - | |
| 103_HIS | ARG |
ClinVar chr16:223481 |
rs63750752
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
| 104_CYS | TYR |
ClinVar chr16:223484 |
rs41417548
|
Pathogenic/Likely pathogenic | - | HEMOGLOBIN SALLANCHES|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia [|MedGen:C3279561|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 104_CYS | ARG |
ClinVar chr16:223483 |
rs1263969213
|
Pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 108_THR | ASN |
ClinVar chr16:227307 |
rs756810015
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 109_LEU | ARG | VAR_002821 |
rs41479844
|
LB/B | - | - | |
| 109_LEU | ARG |
ClinVar chr16:223499 |
rs41479844
|
Pathogenic; other | - | HEMOGLOBIN SUAN-DOK|alpha Thalassemia [|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 110_ALA | ASP | VAR_002822 |
rs28928889
|
LB/B | - | - | |
| 110_ALA | ASP |
ClinVar chr16:227313 |
rs63749948
|
Likely pathogenic | - | HEMOGLOBIN PETAH TIKVA|not provided|Erythrocytosis, familial, 7 [|MedGen:C3661900|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 112_HIS | ASP | VAR_002823 |
rs281864885
|
LB/B | - | - | |
| 112_HIS | PRO |
8.3kJPN chr16:227319 |
-
|
- | 0.0004 | - | |
| 113_LEU | HIS | VAR_002824 |
rs281860618
|
LB/B | - | - | |
| 114_PRO | LEU | VAR_002825 |
rs267607269
|
LB/B | - | - | |
| 114_PRO | ARG | VAR_002826 |
rs267607269
|
LB/B | - | - | |
| 114_PRO | SER | VAR_002827 |
rs281864887
|
LB/B | - | - | |
| 115_ALA | ASP | VAR_002828 |
rs281864888
|
LB/B | - | - | |
| 116_GLU | ALA | VAR_002829 |
rs281864946
|
LB/B | - | - | |
| 116_GLU | TER |
ClinVar chr16:223519 |
rs33987053
|
Pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 119_PRO | SER |
ClinVar chr16:223528 |
rs1262943621
|
Pathogenic/Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 119_PRO | SER |
ClinVar chr16:227339 |
rs63750751
|
Pathogenic | - | alpha Thalassemia|not provided|Hemoglobin H disease [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900|MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 120_ALA | GLU | VAR_002833 |
rs36075744
|
LB/B | - | - | |
| 121_VAL | MET | VAR_002834 |
rs35187567
|
LB/B | - | - | |
| 121_VAL | ALA |
8.3kJPN chr16:227346 |
rs775764044
|
- | 0.0005 | - | |
| 122_HIS | GLN | VAR_002835 |
rs41479347
|
LB/B | - | - | |
| 122_HIS | GLN |
gnomAD chr16:223539 |
rs41479347
|
- | 0.000157157 | - | |
| 125_LEU | PRO | VAR_002836 |
rs41397847
|
LB/B | - | - | |
| 125_LEU | ARG | VAR_025391 |
rs41397847
|
LB/B | - | - | |
| 125_LEU | PRO |
ClinVar chr16:223547 |
rs41397847
|
Pathogenic | - | Hemoglobin Quong Sze|alpha Thalassemia|not provided|Erythrocytosis, familial, 7 [MedGen:C0164294|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 125_LEU | ARG |
ClinVar chr16:223547 |
rs41397847
|
Pathogenic | - | HEMOGLOBIN PLASENCIA|not provided|alpha Thalassemia [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 125_LEU | GLN |
ClinVar chr16:223547 |
rs41397847
|
Pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 126_ASP | VAL | VAR_002837 |
rs33957766
|
LB/B | - | - | |
| 126_ASP | TYR | VAR_002838 |
rs33933481
|
LB/B | - | - | |
| 126_ASP | GLY | VAR_025392 |
rs33957766
|
LB/B | - | - | |
| 126_ASP | ASN |
ClinVar chr16:223549 |
rs33933481
|
Pathogenic | - | HEMOGLOBIN TARRANT|not provided [|MedGen:C3661900] | |
| 126_ASP | HIS |
ClinVar chr16:227360 |
rs63750950
|
Pathogenic; other | - | HEMOGLOBIN SASSARI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 126_ASP | TYR |
ClinVar chr16:223549 |
rs33933481
|
Pathogenic | - | not provided [MedGen:CN517202] | |
| 127_LYS | ASN | VAR_002839 |
rs33972894
|
LB/B | - | - | |
| 129_LEU | PRO | VAR_002840 |
rs281864889
|
LB/B | - | - | |
| 129_LEU | PRO |
ClinVar chr16:227370 |
rs35993655
|
Likely pathogenic | - | HEMOGLOBIN TUNIS-BIZERTE|not provided|alpha Thalassemia [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 129_LEU | PRO |
ClinVar chr16:223559 |
-
|
Pathogenic | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 130_ALA | PRO | VAR_002841 |
rs41529844
|
LB/B | - | - | |
| 130_ALA | ASP | VAR_002842 |
rs41528545
|
LB/B | - | - | |
| 131_SER | PRO | VAR_002843 |
rs63751417
|
LB/B | - | - | |
| 133_SER | ARG | VAR_002844 |
rs56308100
|
LB/B | - | - | |
| 135_VAL | GLU | VAR_002845 |
rs63749809
|
LB/B | - | - | |
| 136_LEU | MET | VAR_002846 |
rs41364652
|
LB/B | - | - | |
| 136_LEU | PRO | VAR_002847 |
rs41469945
|
LB/B | - | - | |
| 136_LEU | ARG | VAR_035242 |
rs41469945
|
LB/B | - | - | |
| 136_LEU | PRO |
ClinVar chr16:223580 |
rs41469945
|
Pathogenic | - | Heinz body anemia|Splenomegaly [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|Human Phenotype Ontology:HP:0001744,Human Phenotype Ontology:HP:0001745,Human Phenotype Ontology:HP:0006269,MedGen:C0038002]; Anemia [Human Phenotype Ontology:HP:0001903,Human Phenotype Ontology:HP:0001926,Human Phenotype Ontology:HP:0003136,Human Phenotype Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871] | |
| 136_LEU | ARG |
ClinVar chr16:227391 |
rs34635364
|
Pathogenic; other | - | HEMOGLOBIN TOYAMA|Heinz body anemia [|Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330] | |
| 138_SER | PRO | VAR_002848 |
rs63750801
|
LB/B | - | - | |
| 139_LYS | GLU | VAR_002849 |
rs41361546
|
LB/B | - | - | |
| 139_LYS | THR | VAR_002850 |
rs56348461
|
LB/B | - | - | |
| 139_LYS | GLU |
ClinVar chr16:223588 |
rs41361546
|
Pathogenic; other | - | HEMOGLOBIN HANAMAKI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 140_TYR | HIS | VAR_002851 |
rs55870409
|
LB/B | - | - | |
| 140_TYR | HIS |
ClinVar chr16:227402 |
rs35723200
|
Pathogenic; other | - | HEMOGLOBIN ETHIOPIA|HEMOGLOBIN ROUEN|Erythrocytosis, familial, 7 [||MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 140_TYR | HIS |
ClinVar chr16:223591 |
-
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
| 141_ARG | CYS | VAR_002852 |
rs63750134
|
LB/B | - | - | |
| 141_ARG | LEU | VAR_002853 |
rs33935328
|
LB/B | - | - | |
| 141_ARG | HIS | VAR_002854 |
rs33935328
|
LB/B | - | - | |
| 141_ARG | PRO | VAR_002855 |
rs33935328
|
LB/B | - | - | |
| 141_ARG | LEU |
ClinVar chr16:227406 |
rs33935328
|
Pathogenic; other | - | HEMOGLOBIN LEGNANO|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 141_ARG | CYS |
ClinVar chr16:227405 |
rs33991910
|
Pathogenic; other | - | HEMOGLOBIN NUNOBIKI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 141_ARG | HIS |
ClinVar chr16:227406 |
rs33935328
|
Pathogenic; other | - | HEMOGLOBIN SURESNES|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] |