UniProtKB/Swiss-Prot P69905: Variant p.His104Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

104 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 Histidine (H) to Arginine (R) at position 104 (H104R, p.His104Arg). 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:

Change from medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 Contaldo; unstable. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs63750752 [ dbSNP | Ensembl ]

Sequence information Variant position:

104 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:

LSDLHAHKLRVDPVNFKLLS H CLLVTLAAHLPAEFTPAVHA 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                         LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Gorilla                       LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

                              LSDLHAYKLRVDPVNFKLLSHCLLVTLACHHPTEFTPAVHA

Rhesus macaque                LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Chimpanzee                    LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Mouse                         LSDLHAHKLRVDPVNFKLLSHCLLVTLASHHPADFTPAVHA

Rat                           LSDLHAHKLRVDPVNFKFLSHCLLVTLACHHPGDFTPAMHA

Pig                           LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPDDFNPSVHA

Bovine                        LSDLHAHKLRVDPVNFKLLSHSLLVTLASHLPSDFTPAVHA

Rabbit                        LSDLHAHKLRVDPVNFKLLSHCLLVTLANHHPSEFTPAVHA

Sheep                         LSDLHAHKLRVDPVNFKLLSHSLLVTLACHLPNDFTPAVHA

Cat                           LSDLHAYKLRVDPVNFKFLSHCLLVTLACHHPAEFTPAVHA

Horse                         LSDLHAHKLRVDPVNFKLLSHCLLSTLAVHLPNDFTPAVHA

Chicken                       LSDLHAHKLRVDPVNFKLLGQCFLVVVAIHHPAALTPEVHA

Xenopus tropicalis            LSDLHAYDLRVDPGNFPLLAHQILVVVAIHFPKQFDPATHK

Zebrafish                     LSELHAFKLRVDPANFKILSHNVIVVIAMLFPADFTPEVHV

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
Peptide	96 – 104	Hemopressin
Domain	2 – 142	Globin
Binding site	88 – 88	proximal binding residue
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Modified residue	109 – 109	Phosphothreonine
Helix	97 – 113

Literature citations
The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography.
Sciarratta G.V.; Ivaldi G.; Molaro G.L.; Sansone G.; Salkie M.L.; Wilson J.B.; Reese A.L.; Huisman T.H.;
Hemoglobin 8:169-181(1984)
Cited for: VARIANT MANITOBA ARG-103; VARIANT CONTALDO ARG-104;

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.