UniProtKB/Swiss-Prot P69905: Variant p.Lys41Met

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

41 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 Lysine (K) to Methionine (M) at position 41 (K41M, p.Lys41Met). 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 basic (K) to medium size and hydrophobic (M) 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 Kanagawa; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864828 [ dbSNP | Ensembl ]

Sequence information Variant position:

41 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:

HAGEYGAEALERMFLSFPTT K TYFPHFDLSHGSAQVKGHGK 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                         HAGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGK

Gorilla                       HAGDYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHG

                              HAGDYGGEALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHG

Rhesus macaque                HAGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHG

Chimpanzee                    HAGEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHG

Mouse                         HGAEYGAEALERMFASFPTTKTYFPHF-DVSHGSAQVKGHG

Rat                           HGGEYGEEALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHG

Pig                           QAGAHGAEALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHG

Bovine                        HAAEYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHG

Rabbit                        HGGEYGAEAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHG

Sheep                         NAGAYGAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHG

Cat                           HAGEYGAEALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHG

Horse                         HAGEYGAEALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHG

Chicken                       HAEEYGAETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHG

Xenopus tropicalis            HGDKYGGEALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHG

Zebrafish                     KADEIGAEALARMLTVYPQTKTYFSHWADLSPGSGPVKKHG

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
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
Helix	38 – 43

Literature citations
Hb Kanagawa [alpha 40(C5)Lys-->Met]: a new alpha chain variant with an increased oxygen affinity.
Miyashita H.; Hashimoto K.; Mohri H.; Ohokubo T.; Harano T.; Harano K.; Imai K.;
Hemoglobin 16:1-10(1992)
Cited for: VARIANT KANAGAWA MET-41;

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.