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:
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-DLSHGSAQVKGHGKK VADALTNAVAHVDDMPNALSA
Gorilla YFPHF-DLSHGSAQVKGHGKK VADALTNAVAHVDDMPNALS
Rhesus macaque YFPHF-DLSHGSAQVKGHGKK VADALTLAVGHVDDMPNALS
Chimpanzee YFPHF-DLSHGSAQVKGHGKK VADALTNAVAHVDDMPNALS
Mouse YFPHF-DVSHGSAQVKGHGKK VADALASAAGHLDDLPGALS
Rat YFSHI-DVSPGSAQVKAHGKK VADALAKAADHVEDLPGALS
Pig YFPHF-NLSHGSDQVKAHGQK VADALTKAVGHLDDLPGALS
Bovine YFPHF-DLSHGSAQVKGHGAK VAAALTKAVEHLDDLPGALS
Rabbit YFPHF-DFTHGSEQIKAHGKK VSEALTKAVGHLDDLPGALS
Sheep YFPHF-DLSHGSAQVKGHGEK VAAALTKAVGHLDDLPGTLS
Cat YFPHF-DLSHGSAQVKAHGQK VADALTQAVAHMDDLPTAMS
Horse YFPHF-DLSHGSAQVKAHGKK VGDALTLAVGHLDDLPGALS
Chicken YFPHF-DLSHGSAQIKGHGKK VVAALIEAANHIDDIAGTLS
Xenopus tropicalis YFPDF-DFSEHSKHILAHGKK VSDALNEACNHLDNIAGCLS
Zebrafish YFSHWADLSPGSGPVKKHGKT IMGAVGEAISKIDDLVGGLA
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
2 – 142 Hemoglobin subunit alpha
59 – 59 Iron (heme b distal ligand)
57 – 57 Not glycated
61 – 61 Not glycated
50 – 50 Phosphoserine
62 – 62 N-linked (Glc) (glycation) lysine
54 – 72
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.;
Cited for: VARIANT EVANS MET-63;
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.