UniProtKB/Swiss-Prot P69905: Variant p.Tyr141His

Hemoglobin subunit alpha
Gene: HBA2
Feedback?

Variant information Variant position:

141 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 Tyrosine (Y) to Histidine (H) at position 141 (Y141H, p.Tyr141His). 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 aromatic (Y) to medium size and polar (H) 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 Rouen/Ethiopia; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs55870409 [ dbSNP | Ensembl ]

Sequence information Variant position:

141 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:

AVHASLDKFLASVSTVLTSK Y R 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                         AVHASLDKFLASVSTVLTSKYR

Gorilla                       AVHASLDKFLASVSTVLTSKYR

                              AVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                AVHASLDKFLASVSTVLTSKYR

Chimpanzee                    AVHASLDKFLASVSTVLTSKYR

Mouse                         AVHASLDKFLASVSTVLTSKYR

Rat                           AMHASLDKFLASVSTVLTSKYR

Pig                           SVHASLDKFLANVSTVLTSKYR

Bovine                        AVHASLDKFLANVSTVLTSKYR

Rabbit                        AVHASLDKFLANVSTVLTSKYR

Sheep                         AVHASLDKFLANVSTVLTSKYR

Cat                           AVHASLDKFFSAVSTVLTSKYR

Horse                         AVHASLDKFLSSVSTVLTSKYR

Chicken                       EVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            ATHKALDKFLVSVSNVLTSKYR

Zebrafish                     EVHVSVDKFFNNLALALSEKYR

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
Modified residue	125 – 125	Phosphoserine
Modified residue	132 – 132	Phosphoserine
Modified residue	135 – 135	Phosphothreonine
Modified residue	138 – 138	Phosphothreonine
Modified residue	139 – 139	Phosphoserine
Helix	139 – 141

Literature citations
Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2.
Webber B.B.; Wilson J.B.; Gu L.-H.; Huisman T.H.J.;
Hemoglobin 16:441-443(1992)
Cited for: PROTEIN SEQUENCE OF 128-142; VARIANT ETHIOPIA HIS-141; Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity.
Wajcman H.; Kister J.; Marden M.; Lahary A.; Monconduit M.; Galacteros F.;
Biochim. Biophys. Acta 1180:53-57(1992)
Cited for: VARIANT ROUEN/ETHIOPIA HIS-141;

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.