HBD_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
HBD
Protein names and data:
HBD_HUMAN
, Hemoglobin subunit delta
, Delta-globin; Hemoglobin delta chain
Lenght: 147 a.a.
Mass: 16055 Da
fasta formatted sequence
Function:
Involved in oxygen transport from the lung to the various peripheral tissues.
Tissue specificity:
Red blood cells.
Genetic variants
2 - 2
V -> A (in Niigata; dbSNP:rs34991152). VAR_003096
34991152
3 - 3
H -> L (in Catania). VAR_030499
3 - 3
H -> R (in Sphakia; dbSNP:rs35433207). VAR_003097
35433207
5 - 5
T -> I (in dbSNP:rs35406175). VAR_018740
35406175
5 - 5
T -> S (in haplotype T11; Kenya; dbSNP:rs35406175). VAR_018741
35406175
11 - 11
A -> D (in MUMC/Corleone). VAR_030500
12 - 12
V -> G (in Pylos; dbSNP:rs34090605). VAR_030501
34090605
13 - 13
N -> K (in NYU; dbSNP:rs34313675). VAR_003098
34313675
17 - 17
G -> R (in Delta'; dbSNP:rs34012192). VAR_003099
34012192
21 - 21
V -> E (in Roosevelt; dbSNP:rs34093840). VAR_003100
34093840
23 - 23
A -> E (in Flatbush; dbSNP:rs35395083). VAR_003101
35395083
25 - 25
G -> D (in Victoria; dbSNP:rs34460332). VAR_003102
34460332
26 - 26
G -> D (in Yokoshima; dbSNP:rs34389944). VAR_003103
34389944
27 - 27
E -> D (in Puglia; dbSNP:rs34289459). VAR_003104
34289459
28 - 28
A -> S (in Yialousa; dbSNP:rs35152987). VAR_003105
35152987
37 - 37
P -> H (in Metaponto; dbSNP:rs34383555). VAR_030502
34383555
44 - 44
E -> G (in Agrinio; dbSNP:rs36084266). VAR_003106
36084266
44 - 44
E -> K (in Melbourne; dbSNP:rs35166721). VAR_003107
35166721
48 - 48
D -> V (in Parkville; dbSNP:rs34977235). VAR_003108
34977235
52 - 52
P -> R (in Adria; dbSNP:rs34489183). VAR_003109
34489183
58 - 58
N -> K (in Campania; dbSNP:rs35666685). VAR_030503
35666685
70 - 70
G -> R (in Indonesia; dbSNP:rs35913713). VAR_003110
35913713
71 - 71
A -> G (in Ventimiglia). VAR_030504
76 - 76
L -> V (in Grovetown; dbSNP:rs34430836). VAR_003111
34430836
86 - 86
F -> S (in Etolia; dbSNP:rs35633566). VAR_030505
35633566
88 - 88
Q -> K (in Montechiaro). VAR_030506
89 - 89
L -> V (in Lucania; dbSNP:rs34933313). VAR_030507
34933313
91 - 91
E -> V (in Honai; dbSNP:rs34420481). VAR_003112
34420481
94 - 94
C -> G (in Sant' Antioco; dbSNP:rs28933077). VAR_014277
28933077
99 - 99
V -> M (in Wrens; unstable; dbSNP:rs28933076). VAR_003113
28933076
100 - 100
D -> N (in Canada; O(2) affinity up; dbSNP:rs35329985). VAR_003114
35329985
105 - 105
R -> S (in Capri; dbSNP:rs34390965). VAR_030508
34390965
117 - 117
R -> C (in Corfu/Troodos; dbSNP:rs33971270). VAR_003115
33971270
117 - 117
R -> H (in Coburg; dbSNP:rs34536353). VAR_003116
34536353
118 - 118
N -> D (in LiangCheng; dbSNP:rs36049174). VAR_003117
36049174
122 - 122
E -> V (in Manzanares; unstable; dbSNP:rs35790721). VAR_003118
35790721
126 - 126
Q -> E (in Zagreb; dbSNP:rs36078803). VAR_003119
36078803
134 - 134
V -> A (in Ninive). VAR_030509
137 - 137
G -> D (in Babinga; dbSNP:rs35849348). VAR_003120
35849348
141 - 141
A -> V (in Bagheria). VAR_030510
142 - 142
L -> P (in Pelendri). VAR_003121
143 - 143
A -> D (in Fitzroy). VAR_003122
147 - 147
H -> R (in Monreale). VAR_014278
Database cross-references
UniProt:
P02042
Ensembl:
ENST00000380299
MIM:
142000
neXtProt:
NX_P02042
Antibodypedia:
P02042
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.