UniProtKB/Swiss-Prot P69905: Variant p.Asn79His

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Histidine (H) at position 79 (N79H, p.Asn79His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In Davenport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs111033602 [ dbSNP | Ensembl ]

Sequence information Variant position:

79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

142 The length of the canonical sequence.
Location on the sequence:

HGKKVADALTNAVAHVDDMP N ALSALSDLHAHKLRVDPVNF The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         HGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNF

Gorilla                       HGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNF

                              HGKKVADALTTAVAHLDDLPGALSALSDLHAYKLRVDPVNF

Rhesus macaque                HGKKVADALTLAVGHVDDMPNALSALSDLHAHKLRVDPVNF

Chimpanzee                    HGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNF

Mouse                         HGKKVADALASAAGHLDDLPGALSALSDLHAHKLRVDPVNF

Rat                           HGKKVADALAKAADHVEDLPGALSTLSDLHAHKLRVDPVNF

Pig                           HGQKVADALTKAVGHLDDLPGALSALSDLHAHKLRVDPVNF

Bovine                        HGAKVAAALTKAVEHLDDLPGALSELSDLHAHKLRVDPVNF

Rabbit                        HGKKVSEALTKAVGHLDDLPGALSTLSDLHAHKLRVDPVNF

Sheep                         HGEKVAAALTKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNF

Cat                           HGQKVADALTQAVAHMDDLPTAMSALSDLHAYKLRVDPVNF

Horse                         HGKKVGDALTLAVGHLDDLPGALSNLSDLHAHKLRVDPVNF

Chicken                       HGKKVVAALIEAANHIDDIAGTLSKLSDLHAHKLRVDPVNF

Xenopus tropicalis            HGKKVSDALNEACNHLDNIAGCLSKLSDLHAYDLRVDPGNF

Zebrafish                     HGKTIMGAVGEAISKIDDLVGGLAALSELHAFKLRVDPANF

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	2 – 142	Hemoglobin subunit alpha
Domain	2 – 142	Globin
Binding site	59 – 59
Binding site	88 – 88	proximal binding residue
Site	61 – 61	Not glycated
Site	91 – 91	Not glycated
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Helix	77 – 80

Literature citations
Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2.
Wilson J.B.; Webber B.B.; Plaseska D.; de Alarcon P.A.; McMillan S.K.; Huisman T.H.J.;
Hemoglobin 14:599-605(1990)
Cited for: VARIANT DAVENPORT HIS-79;

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.