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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Ala111Asp

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 111
Type of variant: help LB/B
Residue change: help From Alanine (A) to Aspartate (D) at position 111 (A111D, p.Ala111Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2
Variant description: help In Petah Tikva; unstable; causes alpha-thalassemia.
Other resources: help


Sequence information Variant position: help 111
Protein sequence length: help 142
Location on the sequence: help KLRVDPVNFKLLSHCLLVTL A AHLPAEFTPAVHASLDKFLA
Residue conservation: help
Human                         KLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLA

Gorilla                       KLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLA

                              KLRVDPVNFKLLSHCLLVTLACHHPTEFTPAVHASLDKFFA

Rhesus macaque                KLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLA

Chimpanzee                    KLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLA

Mouse                         KLRVDPVNFKLLSHCLLVTLASHHPADFTPAVHASLDKFLA

Rat                           KLRVDPVNFKFLSHCLLVTLACHHPGDFTPAMHASLDKFLA

Pig                           KLRVDPVNFKLLSHCLLVTLAAHHPDDFNPSVHASLDKFLA

Bovine                        KLRVDPVNFKLLSHSLLVTLASHLPSDFTPAVHASLDKFLA

Rabbit                        KLRVDPVNFKLLSHCLLVTLANHHPSEFTPAVHASLDKFLA

Sheep                         KLRVDPVNFKLLSHSLLVTLACHLPNDFTPAVHASLDKFLA

Cat                           KLRVDPVNFKFLSHCLLVTLACHHPAEFTPAVHASLDKFFS

Horse                         KLRVDPVNFKLLSHCLLSTLAVHLPNDFTPAVHASLDKFLS

Chicken                       KLRVDPVNFKLLGQCFLVVVAIHHPAALTPEVHASLDKFLC

Xenopus tropicalis            DLRVDPGNFPLLAHQILVVVAIHFPKQFDPATHKALDKFLV

Zebrafish                     KLRVDPANFKILSHNVIVVIAMLFPADFTPEVHVSVDKFFN

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 142 Hemoglobin subunit alpha
Domain 2 – 142 Globin
Site 91 – 91 Not glycated
Site 100 – 100 Not glycated
Modified residue 103 – 103 Phosphoserine
Modified residue 109 – 109 Phosphothreonine
Modified residue 125 – 125 Phosphoserine
Helix 97 – 113



Literature citations
Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression.
Honig G.R.; Shamsuddin M.; Zaizov R.; Steinherz M.; Solar I.; Kirschman C.;
Blood 57:705-711(1981)
Cited for: VARIANT PETAH TIKVA ASP-111;
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.