UniProtKB/Swiss-Prot P69905: Variant p.Ser85Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

85 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 Serine (S) to Arginine (R) at position 85 (S85R, p.Ser85Arg). 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 polar (S) to large size and basic (R) 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 Etobicoke; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281860612 [ dbSNP | Ensembl ]

Sequence information Variant position:

85 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:

DALTNAVAHVDDMPNALSAL S DLHAHKLRVDPVNFKLLSHC 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                         DALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHC

Gorilla                       DALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHC

                              DALTTAVAHLDDLPGALSALSDLHAYKLRVDPVNFKLLSHC

Rhesus macaque                DALTLAVGHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHC

Chimpanzee                    DALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHC

Mouse                         DALASAAGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHC

Rat                           DALAKAADHVEDLPGALSTLSDLHAHKLRVDPVNFKFLSHC

Pig                           DALTKAVGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHC

Bovine                        AALTKAVEHLDDLPGALSELSDLHAHKLRVDPVNFKLLSHS

Rabbit                        EALTKAVGHLDDLPGALSTLSDLHAHKLRVDPVNFKLLSHC

Sheep                         AALTKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFKLLSHS

Cat                           DALTQAVAHMDDLPTAMSALSDLHAYKLRVDPVNFKFLSHC

Horse                         DALTLAVGHLDDLPGALSNLSDLHAHKLRVDPVNFKLLSHC

Chicken                       AALIEAANHIDDIAGTLSKLSDLHAHKLRVDPVNFKLLGQC

Xenopus tropicalis            DALNEACNHLDNIAGCLSKLSDLHAYDLRVDPGNFPLLAHQ

Zebrafish                     GAVGEAISKIDDLVGGLAALSELHAFKLRVDPANFKILSHN

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	88 – 88	proximal binding residue
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Helix	82 – 90

Literature citations
Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent.
Headlee M.G.; Nakatsuji T.; Lam H.; Wrightstone R.N.; Huisman T.H.;
Hemoglobin 7:285-287(1983)
Cited for: VARIANT ETOBICOKE ARG-85;

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.