UniProtKB/Swiss-Prot P69905: Variant p.Ala6Asp

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

6 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 Alanine (A) to Aspartate (D) at position 6 (A6D, p.Ala6Asp). 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 small size and hydrophobic (A) to medium size and acidic (D) 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 J-Toronto. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs34090856 [ dbSNP | Ensembl ]

Sequence information Variant position:

6 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:

MVLSP A DKTNVKAAWGKVGAHAGEYG 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                         MVLSPADKTNVKAAWGKVGAHAGEYG

Gorilla                       -VLSPADKTNVKAAWGKVGAHAGDYG

                              -VLSPADKTNIKSTWDKIGGHAGDYG

Rhesus macaque                MVLSPADKSNVKAAWGKVGGHAGEYG

Chimpanzee                    MVLSPADKTNVKAAWGKVGAHAGEYG

Mouse                         MVLSGEDKSNIKAAWGKIGGHGAEYG

Rat                           MVLSADDKTNIKNCWGKIGGHGGEYG

Pig                           -VLSAADKANVKAAWGKVGGQAGAHG

Bovine                        MVLSAADKGNVKAAWGKVGGHAAEYG

Rabbit                        MVLSPADKTNIKTAWEKIGSHGGEYG

Sheep                         MVLSAADKSNVKAAWGKVGGNAGAYG

Cat                           -VLSAADKSNVKACWGKIGSHAGEYG

Horse                         MVLSAADKTNVKAAWSKVGGHAGEYG

Chicken                       MVLSAADKNNVKGIFTKIAGHAEEYG

Xenopus tropicalis            MHLTADDKKHIKAIWPSVAAHGDKYG

Zebrafish                     MSLSDTDKAVVKAIWAKISPKADEIG

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
Initiator methionine	1 – 1	Removed
Chain	2 – 142	Hemoglobin subunit alpha
Domain	2 – 142	Globin
Site	12 – 12	Not glycated
Modified residue	4 – 4	Phosphoserine
Modified residue	8 – 8	N6-succinyllysine; alternate
Modified residue	9 – 9	Phosphothreonine
Modified residue	12 – 12	N6-succinyllysine
Modified residue	17 – 17	N6-acetyllysine; alternate
Modified residue	17 – 17	N6-succinyllysine; alternate
Modified residue	25 – 25	Phosphotyrosine
Glycosylation	8 – 8	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	17 – 17	N-linked (Glc) (glycation) lysine; alternate
Helix	5 – 18

Literature citations
Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.
Thillet J.; Blouquit Y.; Perrone F.; Rosa J.;
Biochim. Biophys. Acta 491:16-22(1977)
Cited for: VARIANT PONTOISE ASP-64; Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.
Cueruek M.A.; Dimovski A.J.; Baysal E.; Gu L.H.; Kutlar F.; Molchanova T.P.; Webber B.B.; Altay C.; Guergey A.; Huisman T.H.;
Am. J. Hematol. 44:270-275(1993)
Cited for: VARIANT ADANA ASP-60;

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.