UniProtKB/SwissProt variant VAR

Hemoglobin subunit delta
Gene: HBD
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Variant information Variant position:

71
Type of variant:

LB/B
Residue change:

From Alanine (A) to Glycine (G) at position 71 (A71G, p.Ala71Gly).
Physico-chemical properties:

Change from small size and hydrophobic (A) to glycine (G)
BLOSUM score:

0
Variant description:

In Ventimiglia.
Other resources:

Variant rs63750423 [ dbSNP | Ensembl ]

Sequence information Variant position:

71
Protein sequence length:

147
Location on the sequence:

SPDAVMGNPKVKAHGKKVLG A FSDGLAHLDNLKGTFSQLSE
Residue conservation:

Human                         SPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSE

Gorilla                       SPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSE

Chimpanzee                    SPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSE

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 147	Hemoglobin subunit delta
Domain	3 – 147	Globin
Binding site	64 – 64	distal binding residue
Modified residue	51 – 51	Phosphoserine
Helix	59 – 77

Literature citations
Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.
Giambona A.; Passarello C.; Ruggeri G.; Renda D.; Teresi P.; Anza M.; Maggio A.;
Haematologica 91:1681-1684(2006)
Cited for: VARIANT CATANIA LEU-3; VARIANT MUMC/CORLEONE ASP-11; VARIANT VENTIMIGLIA GLY-71; VARIANT MONTECHIARO LYS-88; VARIANT BAGHERIA VAL-141;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02042: Variant p.Ala71Gly