UniProtKB/Swiss-Prot P69905: Variant p.Thr42Ser

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

42 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 Threonine (T) to Serine (S) at position 42 (T42S, p.Thr42Ser). 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 (T) to small size and polar (S) 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 Miyano; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281860623 [ dbSNP | Ensembl ]

Sequence information Variant position:

42 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:

AGEYGAEALERMFLSFPTTK T YFPHFDLSHGSAQVKGHGKK 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                         AGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKK

Gorilla                       AGDYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGK

                              AGDYGGEALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGK

Rhesus macaque                AGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGK

Chimpanzee                    AGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGK

Mouse                         GAEYGAEALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGK

Rat                           GGEYGEEALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGK

Pig                           AGAHGAEALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQ

Bovine                        AAEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGA

Rabbit                        GGEYGAEAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGK

Sheep                         AGAYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGE

Cat                           AGEYGAEALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQ

Horse                         AGEYGAEALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGK

Chicken                       AEEYGAETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGK

Xenopus tropicalis            GDKYGGEALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGK

Zebrafish                     ADEIGAEALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGK

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
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Modified residue	25 – 25	Phosphotyrosine
Modified residue	36 – 36	Phosphoserine
Modified residue	41 – 41	N6-succinyllysine; alternate
Modified residue	50 – 50	Phosphoserine
Glycosylation	41 – 41	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Helix	38 – 43

Literature citations
Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor.
Ohba Y.; Imai K.; Uenaka R.; Ami M.; Fujisawa K.; Itoh K.; Hirakawa K.; Miyaji T.;
Hemoglobin 13:637-647(1989)
Cited for: VARIANT MIYANO SER-42;

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.