| PDB ID | 1A00
|
CHAIN | A |
|---|---|---|---|
| Protein name | HEMOGLOBIN (ALPHA CHAIN) | ||
| Uniprot Accession | P69905 | ||
| The number of similar proteins | 538 | ||
| The number of binding states | 18 | ||
| The number of binding partners | 10 | ||
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
Q6NEE5
|
| 12 |
P68871
P68871
Q2FG07
|
| 13 |
P68871
P00738
Q99TD3
|
| 14 |
P68871
A0A0E8IWL6
P00738
|
| 15 |
P69905
P68871
P68871
G0UVW6
|
| 16 |
P68871
P69905
P68871
A0A1K8PKR3
|
| 17 |
P68871
P68871
P69905
B0LFQ8
|
| 18 |
P68871
P69905
P68871
8VYL
|
Downdload
Molecule viewer
|
Only interaction residues |
|
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|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 1_VAL | GLU |
VAR_002719
rs33981821 |
LB/B | - | 0.6533 | - | |
| 2_LEU | ARG |
VAR_002720
rs36030576 |
LB/B | - | 0.9335 | - | |
| 5_ALA | ASP |
VAR_002721
rs34090856 |
LB/B | - | 0.1588 | - | |
| 5_ALA | PRO |
VAR_002722
rs34751764 |
LB/B | - | 0.3249 | - | |
| 6_ASP | ALA |
VAR_002723
rs33986902 |
LB/B | - | 0.866 | - | |
| 6_ASP | GLY |
VAR_002724
rs281864805 |
LB/B | - | 0.9064 | - | |
| 6_ASP | ASN |
VAR_002725
rs33961916 |
LB/B | - | 0.8183 | - | |
| 6_ASP | VAL |
VAR_002726
rs281864805 |
LB/B | - | 0.932 | - | |
| 6_ASP | TYR |
VAR_002727
rs281864806 |
LB/B | - | 0.9484 | - | |
| 7_LYS | GLU |
VAR_002728
rs34817956 |
LB/B | - | 0.7329 | - | |
| 9_ASN | THR |
VAR_038149
rs281860608 |
LB/B | - | 0.1359 | - | |
| 9_ASN | SER |
gnomAD chr16:226744 rs281860650 |
- | 0.000118576 | 0.0915 | - | |
| 11_LYS | GLU |
VAR_002729
rs33938574 |
LB/B | - | 0.3084 | - | |
| 12_ALA | ASP |
VAR_002730
rs35615982 |
LB/B | - | 0.2036 | - | |
| 13_ALA | PRO |
VAR_038150
rs35331909 |
LB/B | - | 0.8791 | - | |
| 14_TRP | ARG |
VAR_002731
rs33964317 |
LB/B | - | 0.9939 | - | |
| 14_TRP | ARG |
ClinVar chr16:226758 rs33964317 |
Pathogenic/Likely pathogenic | - | 0.9939 | not provided|alpha Thalassemia|alpha Thalassemia [MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Erythrocytosis, familial, 7 [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] | |
| 14_TRP | TER |
ClinVar chr16:226760 rs1596573335 |
Pathogenic/Likely pathogenic | - | - | not specified|Erythrocytosis, familial, 7|Methemoglobinemia, alpha type [MedGen:CN169374|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|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]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 14_TRP | TER |
ClinVar chr16:222956 rs63750367 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 14_TRP | TER |
ClinVar chr16:226759 rs63750090 |
Pathogenic/Likely pathogenic | - | - | alpha Thalassemia|Methemoglobinemia, alpha type [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 14_TRP | ARG |
gnomAD chr16:226758 rs33964317 |
- | 0.000168306 | 0.9939 | - | |
| 15_GLY | ARG |
VAR_002732
rs35816645 |
LB/B | - | 0.4122 | - | |
| 15_GLY | CYS |
ClinVar chr16:222957 rs281864811 |
Likely pathogenic | - | 0.2686 | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 15_GLY | SER |
8.3kJPN chr16:222957 rs281864811 |
- | 0.0002 | 0.0813 | - | |
| 15_GLY | SER |
8.3kJPN chr16:226761 rs35816645 |
- | 0.0004 | 0.0813 | - | |
| 16_LYS | MET |
VAR_002733
rs35210126 |
LB/B | - | 0.2903 | - | |
| 16_LYS | ASN |
VAR_002734
rs281860648 |
LB/B | - | 0.4653 | - | |
| 18_GLY | ASP |
VAR_002735
rs35993097 |
LB/B | - | 0.3854 | - | |
| 18_GLY | ARG |
VAR_002736
rs34504387 |
LB/B | - | 0.5862 | - | |
| 19_ALA | ASP |
VAR_002737
- |
US | - | 0.0941 | - | |
| 19_ALA | GLU |
VAR_002738
rs35628685 |
LB/B | - | 0.1057 | - | |
| 20_HIS | GLN |
VAR_002739
rs41525149 |
LB/B | - | 0.1244 | - | |
| 20_HIS | ARG |
VAR_002740
rs33943087 |
LB/B | - | 0.0959 | - | |
| 21_ALA | ASP |
VAR_002741
rs11548605 |
LB/B | - | 0.5593 | - | |
| 21_ALA | PRO |
VAR_002742
rs34324664 |
LB/B | - | 0.2478 | - | |
| 22_GLY | ASP |
VAR_002743
rs34608326 |
LB/B | - | 0.2335 | - | |
| 22_GLY | GLY |
ClinVar chr16:222980 rs63751457 |
Likely pathogenic | - | - | Alpha-thalassemia, Dutch type|not provided|alpha Thalassemia [MedGen:C1456873|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 23_GLU | GLY |
VAR_002744
rs33939421 |
LB/B | - | 0.1447 | - | |
| 23_GLU | LYS |
VAR_002745
rs281864819 |
LB/B | - | 0.292 | - | |
| 23_GLU | TER |
ClinVar chr16:222981 rs281864819 |
Likely pathogenic | - | - | alpha Thalassemia|not provided [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900] | |
| 24_TYR | HIS |
VAR_002746
rs281864821 |
LB/B | - | 0.6113 | - | |
| 24_TYR | TER |
ClinVar chr16:222986 rs281864550 |
Pathogenic/Likely 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]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 24_TYR | ASP |
ClinVar chr16:222984 rs281864821 |
Likely pathogenic | - | 0.8562 | alpha Thalassemia|not provided [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900] | |
| 26_ALA | GLU |
VAR_002747
rs281864822 |
LB/B | - | 0.495 | - | |
| 26_ALA | VAL |
VAR_025387
rs281864822 |
LB/B | - | 0.4258 | - | |
| 27_GLU | ASP |
VAR_002748
rs281865556 |
LB/B | - | 0.3656 | - | |
| 27_GLU | GLY |
VAR_002749
rs281864823 |
LB/B | - | 0.6732 | - | |
| 27_GLU | VAL |
VAR_002750
rs281864823 |
LB/B | - | 0.7507 | - | |
| 29_LEU | PRO |
ClinVar chr16:223000 rs41341344 |
Pathogenic | - | 0.985 | HEMOGLOBIN AGRINIO|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia [|MedGen:C3279561|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 30_GLU | LYS |
VAR_002751
rs111033605 |
LB/B | - | 0.7188 | - | |
| 31_ARG | SER |
VAR_002752
rs111033606 |
LB/B | - | 0.9871 | - | |
| 31_ARG | LYS |
VAR_025002
rs281864543 |
LB/B | - | 0.8749 | - | |
| 31_ARG | LYS |
ClinVar chr16:226810 - |
Likely pathogenic | - | 0.8749 | Erythrocytosis, familial, 7 [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]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973] | |
| 32_MET | ILE |
ClinVar chr16:223127 rs41515552 |
Pathogenic | - | 0.9551 | not provided|HBA2-related disorder [MedGen:C3661900|] | |
| 32_MET | ILE |
ClinVar chr16:226931 rs1455943416 |
Likely pathogenic | - | 0.9551 | alpha Thalassemia|Methemoglobinemia, alpha type [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 32_MET | THR |
ClinVar chr16:223126 - |
Likely pathogenic | - | - | Erythrocytosis, familial, 7 [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|alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 34_LEU | ARG |
VAR_002753
rs281864825 |
LB/B | - | 0.1578 | - | |
| 35_SER | PRO |
ClinVar chr16:223134 rs63750776 |
Likely pathogenic | - | 0.9076 | not provided|HEMOGLOBIN H HYDROPS FETALIS SYNDROME [MedGen:C3661900|MedGen:C3278365] | |
| 37_PRO | ARG |
VAR_002754
rs281864826 |
LB/B | - | 0.8946 | - | |
| 40_LYS | MET |
VAR_002756
rs281864828 |
LB/B | - | 0.894 | - | |
| 40_LYS | MET |
ClinVar chr16:223150 rs281864828 |
Pathogenic; other | - | 0.894 | HEMOGLOBIN KANAGAWA|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 41_THR | SER |
VAR_002757
rs281860623 |
LB/B | - | 0.7408 | - | |
| 43_PHE | LEU |
VAR_002758
rs41491146 |
LB/B | - | 0.9986 | - | |
| 43_PHE | VAL |
ClinVar chr16:223158 rs281864829 |
Pathogenic | - | 0.9927 | not provided|Thalassemia [MedGen:C3661900|MONDO:MONDO:0000984,MedGen:C0039730] | |
| 43_PHE | LEU |
8.3kJPN chr16:223160 rs41491146 |
- | 0.0001 | 0.9986 | - | |
| 44_PRO | LEU |
VAR_002759
rs33978134 |
LB/B | - | 0.4997 | - | |
| 44_PRO | ARG |
VAR_002760
rs281864830 |
LB/B | - | 0.6697 | - | |
| 44_PRO | LEU |
ClinVar chr16:226966 rs33978134 |
Likely pathogenic | - | 0.4997 | HEMOGLOBIN MILLEDGEVILLE|Erythrocytosis, familial, 7|not provided [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900] | |
| 45_HIS | GLN |
VAR_002761
rs281860624 |
LB/B | - | 0.7928 | - | |
| 45_HIS | ARG |
VAR_002762
rs281864831 |
LB/B | - | 0.7785 | - | |
| 47_ASP | ALA |
VAR_002763
rs281864833 |
LB/B | - | 0.6071 | - | |
| 47_ASP | GLY |
VAR_002764
rs281864833 |
LB/B | - | 0.7283 | - | |
| 47_ASP | HIS |
VAR_002765
rs281864834 |
LB/B | - | 0.7605 | - | |
| 47_ASP | TYR |
VAR_002766
rs281864834 |
LB/B | - | 0.8009 | - | |
| 47_ASP | HIS |
ClinVar chr16:223170 rs281864834 |
Pathogenic/Likely pathogenic | - | 0.7605 | HEMOGLOBIN L (FERRARA)|HEMOGLOBIN SINAI|HEMOGLOBIN HASHARON|HEMOGLOBIN SEALY|not provided|alpha Thalassemia|Erythrocytosis, familial, 7 [||||MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330] | |
| 48_LEU | ARG |
VAR_002767
rs41392146 |
LB/B | - | 0.7359 | - | |
| 49_SER | ARG |
VAR_002768
rs41518249 |
LB/B | - | 0.4998 | - | |
| 50_HIS | ARG |
VAR_002769
rs281864835 |
LB/B | - | 0.0728 | - | |
| 50_HIS | ASN |
8.3kJPN chr16:223179 - |
- | 0.0001 | 0.1875 | - | |
| 50_HIS | ASN |
8.3kJPN chr16:226983 - |
- | 0.0001 | 0.1875 | - | |
| 51_GLY | ASP |
VAR_002770
rs281864836 |
LB/B | - | 0.2319 | - | |
| 51_GLY | ARG |
VAR_002771
rs281864837 |
LB/B | - | 0.6527 | - | |
| 51_GLY | SER |
gnomAD chr16:226986 rs33960522 |
- | 0.00027975 | 0.1602 | - | |
| 53_ALA | ASP |
VAR_002772
rs281864838 |
LB/B | - | 0.1418 | - | |
| 54_GLN | ARG |
VAR_002773
rs281864839 |
LB/B | - | 0.5531 | - | |
| 54_GLN | TER |
ClinVar chr16:223191 rs281864840 |
Pathogenic/Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 56_LYS | ARG |
VAR_002774
rs281864841 |
LB/B | - | 0.0727 | - | |
| 56_LYS | THR |
VAR_002775
rs281864841 |
LB/B | - | 0.1432 | - | |
| 57_GLY | ARG |
VAR_002776
rs281864843 |
LB/B | - | 0.5872 | - | |
| 58_HIS | TYR |
VAR_002777
rs281864845 |
LB/B | - | 0.9645 | - | |
| 58_HIS | GLN |
VAR_025388
rs41378349 |
LB/B | - | 0.9669 | - | |
| 58_HIS | TYR |
ClinVar chr16:223203 - |
Pathogenic | - | 0.9645 | HBA2-related disorder [-] | |
| 59_GLY | ASP |
VAR_002778
rs28928878 |
LB/B | - | 0.9967 | - | |
| 59_GLY | VAL |
VAR_002779
rs281864846 |
LB/B | - | 0.9919 | - | |
| 59_GLY | ARG |
ClinVar chr16:223206 rs41328049 |
Likely pathogenic | - | 0.9919 | 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 | - | 0.9967 | HEMOGLOBIN ADANA|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia|alpha Thalassemia [|MedGen:C3279561|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616] | |
| 59_GLY | ASP |
ClinVar chr16:223207 rs281864846 |
Pathogenic | - | 0.9967 | not provided|Non-immune hydrops fetalis|HEMOGLOBIN H HYDROPS FETALIS SYNDROME|alpha Thalassemia [MedGen:C3661900|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MedGen:C3278365|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 59_GLY | ARG |
ClinVar chr16:227010 rs281864895 |
Pathogenic | - | 0.9919 | not provided|alpha Thalassemia [MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 60_LYS | ASN |
VAR_002780
rs281860659 |
LB/B | - | 0.481 | - | |
| 61_LYS | ASN |
VAR_002782
rs33985574 |
LB/B | - | 0.9191 | - | |
| 61_LYS | THR |
VAR_002783
rs281865558 |
LB/B | - | 0.4743 | - | |
| 61_LYS | ASN |
ClinVar chr16:223214 rs33985574 |
Pathogenic; other | - | 0.9191 | HEMOGLOBIN J (BUDA)|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 61_LYS | TER |
ClinVar chr16:227016 - |
Likely pathogenic | - | - | Erythrocytosis, familial, 7 [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]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973] | |
| 61_LYS | LYS |
ClinVar chr16:223214 - |
Likely pathogenic | - | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 62_VAL | MET |
VAR_002784
rs41515649 |
LB/B | - | 0.9433 | - | |
| 63_ALA | ASP |
VAR_002785
rs34502246 |
LB/B | - | 0.9632 | - | |
| 64_ASP | TYR |
VAR_002786
rs33984024 |
LB/B | - | 0.4907 | - | |
| 66_LEU | PRO |
ClinVar chr16:223228 rs41323248 |
Pathogenic/Likely pathogenic | - | - | HEMOGLOBIN DARTMOUTH|not provided|alpha Thalassemia [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 68_ASN | LYS |
VAR_002787
rs1060339 |
LB/B | - | 0.1555 | - | |
| 71_ALA | GLU |
VAR_002788
rs281864853 |
LB/B | - | 0.1339 | - | |
| 71_ALA | VAL |
VAR_002789
rs281864853 |
LB/B | - | 0.1219 | - | |
| 72_HIS | ARG |
VAR_002790
rs281864854 |
LB/B | - | 0.1991 | - | |
| 74_ASP | ALA |
VAR_002791
rs281864856 |
LB/B | - | 0.5276 | - | |
| 74_ASP | GLY |
VAR_002792
rs33921047 |
LB/B | - | 0.3584 | - | |
| 74_ASP | ASN |
VAR_002793
rs281864857 |
LB/B | - | 0.2314 | - | |
| 75_ASP | ALA |
VAR_002794
rs33991223 |
LB/B | - | 0.4367 | - | |
| 75_ASP | HIS |
VAR_002795
rs281864858 |
LB/B | - | 0.5585 | - | |
| 76_MET | LYS |
VAR_002796
rs33969953 |
LB/B | - | 0.8337 | - | |
| 76_MET | THR |
VAR_002797
rs33969953 |
LB/B | - | 0.6935 | - | |
| 77_PRO | ARG |
VAR_002798
rs281864861 |
LB/B | - | 0.342 | - | |
| 78_ASN | HIS |
VAR_002799
rs111033602 |
LB/B | - | 0.0909 | - | |
| 78_ASN | LYS |
VAR_002800
rs281860607 |
LB/B | - | 0.1216 | - | |
| 79_ALA | GLY |
VAR_012662
rs281860603 |
LB/B | - | 0.2679 | - | |
| 80_LEU | ARG |
VAR_002801
rs281864863 |
LB/B | - | 0.9688 | - | |
| 80_LEU | ARG |
ClinVar chr16:223270 rs281864863 |
Likely pathogenic | - | 0.9688 | not provided [MedGen:C3661900] | |
| 80_LEU | PRO |
ClinVar chr16:223270 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 81_SER | CYS |
VAR_002802
rs281864864 |
LB/B | - | 0.2835 | - | |
| 82_ALA | ASP |
VAR_002803
rs281864865 |
LB/B | - | 0.1746 | - | |
| 84_SER | ARG |
VAR_002804
rs281860612 |
LB/B | - | 0.9875 | - | |
| 85_ASP | VAL |
VAR_002805
rs41331747 |
LB/B | - | 0.8148 | - | |
| 85_ASP | TYR |
VAR_002806
rs281864777 |
LB/B | - | 0.8906 | - | |
| 86_LEU | ARG |
VAR_002807
rs281864866 |
LB/B | - | 0.7366 | - | |
| 87_HIS | ASN |
VAR_002808
rs281864868 |
LB/B | - | 0.9984 | - | |
| 87_HIS | ARG |
VAR_002809
rs281864867 |
LB/B | - | 0.994 | - | |
| 87_HIS | TYR |
ClinVar chr16:227094 rs28928876 |
Pathogenic | - | 0.9923 | HEMOGLOBIN M (SENDAI)|HEMOGLOBIN M (IWATE)|HEMOGLOBIN M (OLDENBURG)|HEMOGLOBIN M (KANKAKEE)|Methemoglobinemia, alpha type|not provided [||||MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973|MedGen:C3661900] | |
| 87_HIS | GLN |
ClinVar chr16:227096 rs1318210119 |
Likely pathogenic | - | 0.9969 | not provided [MedGen:C3661900] | |
| 88_ALA | SER |
VAR_002810
rs35239527 |
LB/B | - | 0.6284 | - | |
| 88_ALA | VAL |
ClinVar chr16:223294 rs33983416 |
Pathogenic; other | - | 0.9762 | HEMOGLOBIN COLUMBIA MISSOURI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 88_ALA | SER |
ClinVar chr16:227097 rs35239527 |
Pathogenic; other | - | 0.6284 | HEMOGLOBIN LOIRE|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 90_LYS | MET |
VAR_002811
rs281864873 |
LB/B | - | 0.3819 | - | |
| 91_LEU | PRO |
VAR_002812
rs281864874 |
LB/B | - | 0.9958 | - | |
| 91_LEU | PHE |
VAR_049272
rs281864494 |
LB/B | - | 0.9794 | - | |
| 91_LEU | PRO |
ClinVar chr16:223303 - |
Pathogenic | - | 0.9958 | not provided [MedGen:C3661900] | |
| 92_ARG | GLN |
VAR_002813
rs281864875 |
LB/B | - | 0.65 | - | |
| 92_ARG | TRP |
VAR_020775
rs281864876 |
LB/B | - | 0.8876 | - | |
| 92_ARG | LEU |
ClinVar chr16:227110 rs33991779 |
Likely pathogenic | - | 0.8702 | HEMOGLOBIN CHESAPEAKE|Erythrocytosis, familial, 7|not provided [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900] | |
| 92_ARG | GLN |
ClinVar chr16:227110 rs33991779 |
Pathogenic; other | - | 0.65 | HEMOGLOBIN J (CAPE TOWN)|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 94_ASP | TYR |
VAR_002814
rs281864878 |
LB/B | - | 0.9814 | - | |
| 94_ASP | ALA |
VAR_025389
rs281864879 |
LB/B | - | 0.9818 | - | |
| 94_ASP | ASN |
ClinVar chr16:223311 rs281864878 |
Pathogenic | - | 0.9825 | not provided [MedGen:C3661900] | |
| 94_ASP | TYR |
ClinVar chr16:223311 rs281864878 |
Pathogenic/Likely pathogenic | - | 0.9814 | not provided [MedGen:C3661900] | |
| 95_PRO | ALA |
VAR_002815
rs281864881 |
LB/B | - | 0.9391 | - | |
| 95_PRO | THR |
VAR_002816
rs281864881 |
LB/B | - | 0.9733 | - | |
| 96_VAL | ILE |
8.3kJPN chr16:223317 rs281864559 |
- | 0.0001 | 0.191 | - | |
| 97_ASN | LYS |
VAR_002817
rs41338947 |
LB/B | - | 0.9962 | - | |
| 99_LYS | GLU |
VAR_002818
rs281864882 |
LB/B | - | 0.8585 | - | |
| 102_SER | ARG |
VAR_002819
rs41344646 |
LB/B | - | 0.9839 | - | |
| 103_HIS | ARG |
VAR_002820
rs63750752 |
LB/B | - | 0.7029 | - | |
| 103_HIS | TYR |
VAR_025390
rs63750073 |
LB/B | - | 0.4746 | - | |
| 104_CYS | TYR |
ClinVar chr16:223484 rs41417548 |
Pathogenic/Likely pathogenic | - | 0.9742 | HEMOGLOBIN SALLANCHES|Hemoglobin H disease, nondeletional|alpha Thalassemia|not provided|Hemoglobin H disease|Erythrocytosis, familial, 7 [|MedGen:C3279561|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900|MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; 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]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616] | |
| 104_CYS | ARG |
ClinVar chr16:223483 rs1263969213 |
Pathogenic/Likely pathogenic | - | 0.9876 | alpha Thalassemia|Hemoglobin H disease [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|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]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 106_LEU | ARG |
ClinVar chr16:223490 rs2505431550 |
Pathogenic | - | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 108_THR | ASN |
ClinVar chr16:227307 rs756810015 |
Likely pathogenic | - | 0.7595 | not provided [MedGen:C3661900] | |
| 109_LEU | ARG |
VAR_002821
rs41479844 |
LB/B | - | 0.9476 | - | |
| 109_LEU | ARG |
ClinVar chr16:223499 rs41479844 |
Pathogenic; other | - | 0.9476 | HEMOGLOBIN SUAN-DOK|alpha Thalassemia [|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 109_LEU | PRO |
ClinVar chr16:227310 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 109_LEU | LEU |
ClinVar chr16:227309 - |
Likely pathogenic | - | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 110_ALA | ASP |
VAR_002822
rs28928889 |
LB/B | - | 0.9815 | - | |
| 110_ALA | ASP |
ClinVar chr16:227313 rs63749948 |
Likely pathogenic | - | 0.9815 | HEMOGLOBIN PETAH TIKVA|not provided|alpha Thalassemia [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616] | |
| 112_HIS | ASP |
VAR_002823
rs281864885 |
LB/B | - | 0.7251 | - | |
| 112_HIS | PRO |
8.3kJPN chr16:227319 - |
- | 0.0004 | 0.7533 | - | |
| 113_LEU | HIS |
VAR_002824
rs281860618 |
LB/B | - | 0.0662 | - | |
| 114_PRO | LEU |
VAR_002825
rs267607269 |
LB/B | - | 0.657 | - | |
| 114_PRO | ARG |
VAR_002826
rs267607269 |
LB/B | - | 0.3092 | - | |
| 114_PRO | SER |
VAR_002827
rs281864887 |
LB/B | - | 0.1587 | - | |
| 115_ALA | ASP |
VAR_002828
rs281864888 |
LB/B | - | 0.1054 | - | |
| 116_GLU | ALA |
VAR_002829
rs281864946 |
LB/B | - | 0.0892 | - | |
| 116_GLU | TER |
ClinVar chr16:223519 rs33987053 |
Pathogenic | - | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 116_GLU | TER |
ClinVar chr16:227330 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 119_PRO | SER |
ClinVar chr16:223528 rs1262943621 |
Pathogenic/Likely pathogenic | - | 0.4256 | not provided [MedGen:C3661900] | |
| 119_PRO | SER |
ClinVar chr16:227339 rs63750751 |
Pathogenic | - | 0.4256 | alpha Thalassemia|not provided|Heinz body anemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900|Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Methemoglobinemia, alpha type [MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Erythrocytosis, familial, 7|HBA1-related disorder|Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981||MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 120_ALA | GLU |
VAR_002833
rs36075744 |
LB/B | - | 0.1323 | - | |
| 121_VAL | MET |
VAR_002834
rs35187567 |
LB/B | - | 0.1455 | - | |
| 121_VAL | ALA |
8.3kJPN chr16:227346 rs775764044 |
- | 0.0005 | 0.1777 | - | |
| 122_HIS | GLN |
VAR_002835
rs41479347 |
LB/B | - | 0.533 | - | |
| 122_HIS | GLN |
gnomAD chr16:223539 rs41479347 |
- | 0.000157157 | 0.533 | - | |
| 124_SER | PRO |
ClinVar chr16:223543 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 125_LEU | PRO |
VAR_002836
rs41397847 |
LB/B | - | 0.9912 | - | |
| 125_LEU | ARG |
VAR_025391
rs41397847 |
LB/B | - | 0.9427 | - | |
| 125_LEU | PRO |
ClinVar chr16:223547 rs41397847 |
Pathogenic | - | 0.9912 | Hemoglobin Quong Sze|alpha Thalassemia|not provided|Erythrocytosis, familial, 7 [|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MedGen:C3661900|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 125_LEU | ARG |
ClinVar chr16:223547 rs41397847 |
Pathogenic/Likely pathogenic | - | 0.9427 | HEMOGLOBIN PLASENCIA|not provided|alpha Thalassemia|alpha Thalassemia [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616] | |
| 125_LEU | GLN |
ClinVar chr16:223547 rs41397847 |
Pathogenic | - | 0.8702 | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 126_ASP | VAL |
VAR_002837
rs33957766 |
LB/B | - | 0.9776 | - | |
| 126_ASP | TYR |
VAR_002838
rs33933481 |
LB/B | - | 0.947 | - | |
| 126_ASP | GLY |
VAR_025392
rs33957766 |
LB/B | - | 0.9089 | - | |
| 126_ASP | HIS |
ClinVar chr16:227360 rs63750950 |
Pathogenic; other | - | 0.9593 | HEMOGLOBIN SASSARI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 126_ASP | TYR |
ClinVar chr16:223549 rs33933481 |
Pathogenic | - | 0.947 | not provided [MedGen:C3661900] | |
| 127_LYS | ASN |
VAR_002839
rs33972894 |
LB/B | - | 0.9772 | - | |
| 128_PHE | SER |
ClinVar chr16:227367 rs604131 |
Likely pathogenic | - | - | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 129_LEU | PRO |
VAR_002840
rs281864889 |
LB/B | - | 0.9816 | - | |
| 129_LEU | PRO |
ClinVar chr16:227370 rs35993655 |
Likely pathogenic | - | 0.9816 | HEMOGLOBIN TUNIS-BIZERTE|not provided|alpha Thalassemia|Methemoglobinemia, alpha type [|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0020835,MedGen:C4693798,OMIM:617973]; Erythrocytosis, familial, 7 [MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981]; Heinz body anemia [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330]; Hemoglobin H disease [MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616]; alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 129_LEU | PRO |
ClinVar chr16:223559 rs281864889 |
Pathogenic | - | 0.9816 | alpha Thalassemia [MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846] | |
| 130_ALA | PRO |
VAR_002841
rs41529844 |
LB/B | - | 0.9694 | - | |
| 130_ALA | ASP |
VAR_002842
rs41528545 |
LB/B | - | 0.7297 | - | |
| 131_SER | PRO |
VAR_002843
rs63751417 |
LB/B | - | 0.9282 | - | |
| 133_SER | ARG |
VAR_002844
rs56308100 |
LB/B | - | 0.9895 | - | |
| 135_VAL | GLU |
VAR_002845
rs63749809 |
LB/B | - | 0.833 | - | |
| 136_LEU | MET |
VAR_002846
rs41364652 |
LB/B | - | 0.8251 | - | |
| 136_LEU | PRO |
VAR_002847
rs41469945 |
LB/B | - | 0.9918 | - | |
| 136_LEU | ARG |
VAR_035242
rs41469945 |
LB/B | - | 0.9809 | - | |
| 136_LEU | PRO |
ClinVar chr16:223580 rs41469945 |
Pathogenic | - | 0.9918 | 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 | - | 0.9809 | Heinz body anemia|HEMOGLOBIN TOYAMA [Human Phenotype Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|] | |
| 138_SER | PRO |
VAR_002848
rs63750801 |
LB/B | - | 0.9869 | - | |
| 139_LYS | GLU |
VAR_002849
rs41361546 |
LB/B | - | 0.9274 | - | |
| 139_LYS | THR |
VAR_002850
rs56348461 |
LB/B | - | 0.8647 | - | |
| 139_LYS | GLU |
ClinVar chr16:223588 rs41361546 |
Pathogenic; other | - | 0.9274 | HEMOGLOBIN HANAMAKI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 140_TYR | HIS |
VAR_002851
rs55870409 |
LB/B | - | 0.9964 | - | |
| 140_TYR | HIS |
ClinVar chr16:227402 rs35723200 |
Pathogenic; other | - | 0.9964 | HEMOGLOBIN ETHIOPIA|HEMOGLOBIN ROUEN|Erythrocytosis, familial, 7 [||MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 140_TYR | HIS |
ClinVar chr16:223591 rs55870409 |
Likely pathogenic | - | 0.9964 | not provided [MedGen:C3661900] | |
| 141_ARG | CYS |
VAR_002852
rs63750134 |
LB/B | - | 0.9704 | - | |
| 141_ARG | LEU |
VAR_002853
rs33935328 |
LB/B | - | 0.976 | - | |
| 141_ARG | HIS |
VAR_002854
rs33935328 |
LB/B | - | 0.9461 | - | |
| 141_ARG | PRO |
VAR_002855
rs33935328 |
LB/B | - | 0.987 | - | |
| 141_ARG | LEU |
ClinVar chr16:227406 rs33935328 |
Pathogenic; other | - | 0.976 | HEMOGLOBIN LEGNANO|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 141_ARG | CYS |
ClinVar chr16:227405 rs33991910 |
Pathogenic; other | - | 0.9704 | HEMOGLOBIN NUNOBIKI|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] | |
| 141_ARG | HIS |
ClinVar chr16:227406 rs33935328 |
Pathogenic; other | - | 0.9461 | HEMOGLOBIN SURESNES|Erythrocytosis, familial, 7 [|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981] |