UniProtKB/Swiss-Prot P69905: Variant p.Pro45Leu

Hemoglobin subunit alpha
Gene: HBA2
Feedback?

Variant information Variant position:

45 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 Proline (P) to Leucine (L) at position 45 (P45L, p.Pro45Leu). 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 hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 Milledgeville; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs33978134 [ dbSNP | Ensembl ]
Variant rs281864830 [ dbSNP | Ensembl ]

Sequence information Variant position:

45 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:

YGAEALERMFLSFPTTKTYF P HFDLSHGSAQVKGHGKKVAD 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                         YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVAD

Gorilla                       YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVA

                              YGGEALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVA

Rhesus macaque                YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVA

Chimpanzee                    YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVA

Mouse                         YGAEALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVA

Rat                           YGEEALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVA

Pig                           HGAEALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVA

Bovine                        YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVA

Rabbit                        YGAEAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVS

Sheep                         YGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVA

Cat                           YGAEALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVA

Horse                         YGAEALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVG

Chicken                       YGAETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVV

Xenopus tropicalis            YGGEALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVS

Zebrafish                     IGAEALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIM

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
Beta strand	45 – 47

Literature citations
Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity.
Honig G.R.; Vida L.N.; Shamsuddin M.; Mason R.G.; Schlumpf H.W.; Luke R.A.;
Biochim. Biophys. Acta 626:424-431(1980)
Cited for: VARIANT MILLEDGEVILLE LEU-45;

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.