Variant position: 64 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 FPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALSAL
Gorilla FPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALSA
Rhesus macaque FPHF-DLSHGSAQVKGHGKKV ADALTLAVGHVDDMPNALSA
Chimpanzee FPHF-DLSHGSAQVKGHGKKV ADALTNAVAHVDDMPNALSA
Mouse FPHF-DVSHGSAQVKGHGKKV ADALASAAGHLDDLPGALSA
Rat FSHI-DVSPGSAQVKAHGKKV ADALAKAADHVEDLPGALST
Pig FPHF-NLSHGSDQVKAHGQKV ADALTKAVGHLDDLPGALSA
Bovine FPHF-DLSHGSAQVKGHGAKV AAALTKAVEHLDDLPGALSE
Rabbit FPHF-DFTHGSEQIKAHGKKV SEALTKAVGHLDDLPGALST
Sheep FPHF-DLSHGSAQVKGHGEKV AAALTKAVGHLDDLPGTLSD
Cat FPHF-DLSHGSAQVKAHGQKV ADALTQAVAHMDDLPTAMSA
Horse FPHF-DLSHGSAQVKAHGKKV GDALTLAVGHLDDLPGALSN
Chicken FPHF-DLSHGSAQIKGHGKKV VAALIEAANHIDDIAGTLSK
Xenopus tropicalis FPDF-DFSEHSKHILAHGKKV SDALNEACNHLDNIAGCLSK
Zebrafish FSHWADLSPGSGPVKKHGKTI MGAVGEAISKIDDLVGGLAA
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
Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.
Thillet J.; Blouquit Y.; Perrone F.; Rosa J.;
Biochim. Biophys. Acta 491:16-22(1977)
Cited for: VARIANT PONTOISE ASP-64;
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.