UniProtKB/Swiss-Prot P69905: Variant p.Phe44Leu

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

44 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 Phenylalanine (F) to Leucine (L) at position 44 (F44L, p.Phe44Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) 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 Hirosaki; unstable. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41491146 [ dbSNP | Ensembl ]

Sequence information Variant position:

44 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:

EYGAEALERMFLSFPTTKTY F PHFDLSHGSAQVKGHGKKVA 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                         EYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVA

Gorilla                       DYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKV

                              DYGGEALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKV

Rhesus macaque                EYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKV

Chimpanzee                    EYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKV

Mouse                         EYGAEALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKV

Rat                           EYGEEALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKV

Pig                           AHGAEALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKV

Bovine                        EYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKV

Rabbit                        EYGAEAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKV

Sheep                         AYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKV

Cat                           EYGAEALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKV

Horse                         EYGAEALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKV

Chicken                       EYGAETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKV

Xenopus tropicalis            KYGGEALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKV

Zebrafish                     EIGAEALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTI

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

Literature citations
Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant.
Ohba Y.; Miyaji T.; Matsuoka M.; Yokoyama M.; Numakura H.;
Biochim. Biophys. Acta 405:155-160(1975)
Cited for: VARIANT HIROSAKI LEU-44;

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.