Sequence information
Variant position: 63 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:
YFPHFDLSHGSAQVKGHGKK
V ADALTNAVAHVDDMPNALSA
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 YFPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALSA
Gorilla YFPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALS
YFPHF-DLSPGSAQVKAHGKKV ADALTTAVAHLDDLPGALS
Rhesus macaque YFPHF-DLSHGSAQVKGHGKKV ADALTLAVGHVDDMPNALS
Chimpanzee YFPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALS
Mouse YFPHF-DVSHGSAQVKGHGKKV ADALASAAGHLDDLPGALS
Rat YFSHI-DVSPGSAQVKAHGKKV ADALAKAADHVEDLPGALS
Pig YFPHF-NLSHGSDQVKAHGQKV ADALTKAVGHLDDLPGALS
Bovine YFPHF-DLSHGSAQVKGHGAKV AAALTKAVEHLDDLPGALS
Rabbit YFPHF-DFTHGSEQIKAHGKKV SEALTKAVGHLDDLPGALS
Sheep YFPHF-DLSHGSAQVKGHGEKV AAALTKAVGHLDDLPGTLS
Cat YFPHF-DLSHGSAQVKAHGQKV ADALTQAVAHMDDLPTAMS
Horse YFPHF-DLSHGSAQVKAHGKKV GDALTLAVGHLDDLPGALS
Chicken YFPHF-DLSHGSAQIKGHGKKV VAALIEAANHIDDIAGTLS
Xenopus tropicalis YFPDF-DFSEHSKHILAHGKKV SDALNEACNHLDNIAGCLS
Zebrafish YFSHWADLSPGSGPVKKHGKTI MGAVGEAISKIDDLVGGLA
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
Metal binding
59 – 59
Iron (heme b distal ligand)
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
Unstable Hb 'Evans' (GTG->ATG/Val 62 Met) was detected on the alpha-2 globin gene of an Hispanic girl.
Kutlar F.; Elam D.; Hoff J.V.; Holley L.; Kutlar A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2); VARIANT EVANS MET-63;
Hb Evans or alpha 262(E11)Val-->Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia.
Wilson J.B.; Webber B.B.; Kutlar A.; Reese A.L.; McKie V.C.; Lutcher C.L.; Felice A.E.; Huisman T.H.J.;
Hemoglobin 13:557-566(1989)
Cited for: VARIANT EVANS MET-63;
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.