UniProtKB/Swiss-Prot P69905: Variant p.His123Gln

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

123 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 Glutamine (Q) at position 123 (H123Q, p.His123Gln). 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:

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 Westmead. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41479347 [ dbSNP | Ensembl ]

Sequence information Variant position:

123 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:

SHCLLVTLAAHLPAEFTPAV H ASLDKFLASVSTVLTSKYR 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                         SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              SHCLLVTLACHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         SHCLLVTLASHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           SHCLLVTLACHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           SHCLLVTLAAHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        SHSLLVTLASHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        SHCLLVTLANHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         SHSLLVTLACHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           SHCLLVTLACHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         SHCLLSTLAVHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       GQCFLVVVAIHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            AHQILVVVAIHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     SHNVIVVIAMLFPADFTPEVHVSVDKFFNNLALALSEKYR

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
Site	122 – 123	(Microbial infection) Cleavage; by N.americanus apr-2
Modified residue	103 – 103	Phosphoserine
Modified residue	109 – 109	Phosphothreonine
Modified residue	125 – 125	Phosphoserine
Modified residue	132 – 132	Phosphoserine
Modified residue	135 – 135	Phosphothreonine
Modified residue	138 – 138	Phosphothreonine
Modified residue	139 – 139	Phosphoserine
Helix	120 – 138

Literature citations
Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.
Jiang N.H.; Liang S.; Wen X.J.; Liang R.; Su C.; Tang Z.;
Hemoglobin 15:291-295(1991)
Cited for: VARIANT WESTMEAD GLN-123;

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.