UniProtKB/Swiss-Prot P69905: Variant p.Lys100Glu

Hemoglobin subunit alpha
Gene: HBA2
Feedback?

Variant information Variant position:

100 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 Glutamate (E) at position 100 (K100E, p.Lys100Glu). 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 acidic (E) 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 Turriff. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864882 [ dbSNP | Ensembl ]

Sequence information Variant position:

100 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:

ALSALSDLHAHKLRVDPVNF K LLSHCLLVTLAAHLPAEFTP 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                         ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP

Gorilla                       ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP

                              ALSALSDLHAYKLRVDPVNFKLLSHCLLVTLACHHPTEFTP

Rhesus macaque                ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP

Chimpanzee                    ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP

Mouse                         ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLASHHPADFTP

Rat                           ALSTLSDLHAHKLRVDPVNFKFLSHCLLVTLACHHPGDFTP

Pig                           ALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPDDFNP

Bovine                        ALSELSDLHAHKLRVDPVNFKLLSHSLLVTLASHLPSDFTP

Rabbit                        ALSTLSDLHAHKLRVDPVNFKLLSHCLLVTLANHHPSEFTP

Sheep                         TLSDLSDLHAHKLRVDPVNFKLLSHSLLVTLACHLPNDFTP

Cat                           AMSALSDLHAYKLRVDPVNFKFLSHCLLVTLACHHPAEFTP

Horse                         ALSNLSDLHAHKLRVDPVNFKLLSHCLLSTLAVHLPNDFTP

Chicken                       TLSKLSDLHAHKLRVDPVNFKLLGQCFLVVVAIHHPAALTP

Xenopus tropicalis            CLSKLSDLHAYDLRVDPGNFPLLAHQILVVVAIHFPKQFDP

Zebrafish                     GLAALSELHAFKLRVDPANFKILSHNVIVVIAMLFPADFTP

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
Peptide	96 – 104	Hemopressin
Domain	2 – 142	Globin
Binding site	88 – 88	proximal binding residue
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Modified residue	109 – 109	Phosphothreonine
Helix	97 – 113

Literature citations
A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys-->Glu]: the interference of abnormal hemoglobins in Hb A1c determination.
Langdown J.V.; Davidson R.J.; Williamson D.;
Hemoglobin 16:11-17(1992)
Cited for: VARIANT TURRIFF GLU-100;

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.