UniProtKB/Swiss-Prot P69905: Variant p.Leu81Arg

Hemoglobin subunit alpha
Gene: HBA2
Feedback?

Variant information Variant position:

81 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 Leucine (L) to Arginine (R) at position 81 (L81R, p.Leu81Arg). 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 hydrophobic (L) to large size and basic (R) 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 Ann Arbor; unstable. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864863 [ dbSNP | Ensembl ]

Sequence information Variant position:

81 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:

KKVADALTNAVAHVDDMPNA L SALSDLHAHKLRVDPVNFKL 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                         KKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKL

Gorilla                       KKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKL

                              KKVADALTTAVAHLDDLPGALSALSDLHAYKLRVDPVNFKL

Rhesus macaque                KKVADALTLAVGHVDDMPNALSALSDLHAHKLRVDPVNFKL

Chimpanzee                    KKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKL

Mouse                         KKVADALASAAGHLDDLPGALSALSDLHAHKLRVDPVNFKL

Rat                           KKVADALAKAADHVEDLPGALSTLSDLHAHKLRVDPVNFKF

Pig                           QKVADALTKAVGHLDDLPGALSALSDLHAHKLRVDPVNFKL

Bovine                        AKVAAALTKAVEHLDDLPGALSELSDLHAHKLRVDPVNFKL

Rabbit                        KKVSEALTKAVGHLDDLPGALSTLSDLHAHKLRVDPVNFKL

Sheep                         EKVAAALTKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFKL

Cat                           QKVADALTQAVAHMDDLPTAMSALSDLHAYKLRVDPVNFKF

Horse                         KKVGDALTLAVGHLDDLPGALSNLSDLHAHKLRVDPVNFKL

Chicken                       KKVVAALIEAANHIDDIAGTLSKLSDLHAHKLRVDPVNFKL

Xenopus tropicalis            KKVSDALNEACNHLDNIAGCLSKLSDLHAYDLRVDPGNFPL

Zebrafish                     KTIMGAVGEAISKIDDLVGGLAALSELHAFKLRVDPANFKI

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	61 – 61	Not glycated
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine

Literature citations
Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation.
Adams J.G. III; Winter W.P.; Rucknagel D.L.; Spencer H.H.;
Science 176:1427-1429(1972)
Cited for: VARIANT ANN ARBOR ARG-81;

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.