UniProtKB/Swiss-Prot P69905: Variant p.Asn69Lys

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

69 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 Asparagine (N) to Lysine (K) at position 69 (N69K, p.Asn69Lys). 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 polar (N) to large size and basic (K) 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 G-Philadelphia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1060339 [ dbSNP | Ensembl ]

Sequence information Variant position:

69 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:

LSHGSAQVKGHGKKVADALT N AVAHVDDMPNALSALSDLHA 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                         LSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHA

Gorilla                       LSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHA

                              LSPGSAQVKAHGKKVADALTTAVAHLDDLPGALSALSDLHA

Rhesus macaque                LSHGSAQVKGHGKKVADALTLAVGHVDDMPNALSALSDLHA

Chimpanzee                    LSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHA

Mouse                         VSHGSAQVKGHGKKVADALASAAGHLDDLPGALSALSDLHA

Rat                           VSPGSAQVKAHGKKVADALAKAADHVEDLPGALSTLSDLHA

Pig                           LSHGSDQVKAHGQKVADALTKAVGHLDDLPGALSALSDLHA

Bovine                        LSHGSAQVKGHGAKVAAALTKAVEHLDDLPGALSELSDLHA

Rabbit                        FTHGSEQIKAHGKKVSEALTKAVGHLDDLPGALSTLSDLHA

Sheep                         LSHGSAQVKGHGEKVAAALTKAVGHLDDLPGTLSDLSDLHA

Cat                           LSHGSAQVKAHGQKVADALTQAVAHMDDLPTAMSALSDLHA

Horse                         LSHGSAQVKAHGKKVGDALTLAVGHLDDLPGALSNLSDLHA

Chicken                       LSHGSAQIKGHGKKVVAALIEAANHIDDIAGTLSKLSDLHA

Xenopus tropicalis            FSEHSKHILAHGKKVSDALNEACNHLDNIAGCLSKLSDLHA

Zebrafish                     LSPGSGPVKKHGKTIMGAVGEAISKIDDLVGGLAALSELHA

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
Binding site	88 – 88	proximal binding residue
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Modified residue	50 – 50	Phosphoserine
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Helix	54 – 72

Literature citations
Hb G-Philadelphia (Alpha,Codon 68;AAC>AAG/Asn>Lys)in black is detected on a chromosome that carries alpha 3.7 kb deletion showed completely normal alpha-2 globin gene sequence.
Kutlar F.; Davis D.H.; Nechtman J.; Elam D.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2); VARIANT G-PHILADELPHIA LYS-69;

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.