UniProtKB/Swiss-Prot P69905: Variant p.Leu49Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

49 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 Leucine (L) to Arginine (R) at position 49 (L49R, p.Leu49Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 Montgomery. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41392146 [ dbSNP | Ensembl ]

Sequence information Variant position:

49 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:

ALERMFLSFPTTKTYFPHFD L SHGSAQVKGHGKKVADALTN 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                         ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTN

Gorilla                       ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALT

                              ALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVADALT

Rhesus macaque                ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALT

Chimpanzee                    ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALT

Mouse                         ALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVADALA

Rat                           ALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVADALA

Pig                           ALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVADALT

Bovine                        ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVAAALT

Rabbit                        AVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVSEALT

Sheep                         ALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVAAALT

Cat                           ALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVADALT

Horse                         ALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVGDALT

Chicken                       TLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVVAALI

Xenopus tropicalis            ALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVSDALN

Zebrafish                     ALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIMGAVG

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	48 – 49	(Microbial infection) Cleavage; by N.americanus apr-2
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
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
Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).
Brimhall B.; Jones R.T.; Schneider R.G.; Hosty T.S.; Tomlin G.; Atkins R.;
Biochim. Biophys. Acta 379:28-32(1975)
Cited for: VARIANT MONTGOMERY ARG-49;

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.