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UniProtKB/Swiss-Prot P69905 : Variant p.Pro38Arg
Hemoglobin subunit alpha
Gene: HBA2
Variant information
Variant position: 38 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Proline (P) to Arginine (R) at position 38 (P38R, p.Pro38Arg).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 (P) to large size and basic (R)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The 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 Bourmedes.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 38 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:
VGAHAGEYGAEALERMFLSF
P TTKTYFPHFDLSHGSAQVKG
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 VGAHAGEYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVKG
Gorilla VGAHAGDYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVK
IGGHAGDYGGEALDRTFQSFP TTKTYFPHF-DLSPGSAQVK
Rhesus macaque VGGHAGEYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVK
Chimpanzee VGAHAGEYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVK
Mouse IGGHGAEYGAEALERMFASFP TTKTYFPHF-DVSHGSAQVK
Rat IGGHGGEYGEEALQRMFAAFP TTKTYFSHI-DVSPGSAQVK
Pig VGGQAGAHGAEALERMFLGFP TTKTYFPHF-NLSHGSDQVK
Bovine VGGHAAEYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVK
Rabbit IGSHGGEYGAEAVERMFLGFP TTKTYFPHF-DFTHGSEQIK
Sheep VGGNAGAYGAEALERMFLSFP TTKTYFPHF-DLSHGSAQVK
Cat IGSHAGEYGAEALERTFCSFP TTKTYFPHF-DLSHGSAQVK
Horse VGGHAGEYGAEALERMFLGFP TTKTYFPHF-DLSHGSAQVK
Chicken IAGHAEEYGAETLERMFTTYP PTKTYFPHF-DLSHGSAQIK
Xenopus tropicalis VAAHGDKYGGEALHRMFMCAP KTKTYFPDF-DFSEHSKHIL
Zebrafish ISPKADEIGAEALARMLTVYP QTKTYFSHWADLSPGSGPVK
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
Site
57 – 57
Not glycated
Modified residue
25 – 25
Phosphotyrosine
Modified residue
36 – 36
Phosphoserine
Modified residue
41 – 41
N6-succinyllysine; alternate
Modified residue
50 – 50
Phosphoserine
Glycosylation
41 – 41
N-linked (Glc) (glycation) lysine; alternate
Helix
38 – 43
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.