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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Thr42Ser

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help 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: help In Miyano; O(2) affinity up. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 142 The length of the canonical sequence.
Location on the sequence: help 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: help 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: help 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.
TypePositionsDescription
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.