Variant position: 54 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 FLSFPTTKTYFPHF-DLSHGS AQVKGHGKKVADALTNAVAHV
Gorilla FLSFPTTKTYFPHF-DLSHGS AQVKGHGKKVADALTNAVAH
Rhesus macaque FLSFPTTKTYFPHF-DLSHGS AQVKGHGKKVADALTLAVGH
Chimpanzee FLSFPTTKTYFPHF-DLSHGS AQVKGHGKKVADALTNAVAH
Mouse FASFPTTKTYFPHF-DVSHGS AQVKGHGKKVADALASAAGH
Rat FAAFPTTKTYFSHI-DVSPGS AQVKAHGKKVADALAKAADH
Pig FLGFPTTKTYFPHF-NLSHGS DQVKAHGQKVADALTKAVGH
Bovine FLSFPTTKTYFPHF-DLSHGS AQVKGHGAKVAAALTKAVEH
Rabbit FLGFPTTKTYFPHF-DFTHGS EQIKAHGKKVSEALTKAVGH
Sheep FLSFPTTKTYFPHF-DLSHGS AQVKGHGEKVAAALTKAVGH
Cat FCSFPTTKTYFPHF-DLSHGS AQVKAHGQKVADALTQAVAH
Horse FLGFPTTKTYFPHF-DLSHGS AQVKAHGKKVGDALTLAVGH
Chicken FTTYPPTKTYFPHF-DLSHGS AQIKGHGKKVVAALIEAANH
Xenopus tropicalis FMCAPKTKTYFPDF-DFSEHS KHILAHGKKVSDALNEACNH
Zebrafish LTVYPQTKTYFSHWADLSPGS GPVKKHGKTIMGAVGEAISK
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 distal ligand)
53 – 54 (Microbial infection) Cleavage; by N.americanus apr-2
57 – 57 Not glycated
61 – 61 Not glycated
36 – 36 Phosphoserine
41 – 41 N6-succinyllysine; alternate
50 – 50 Phosphoserine
41 – 41 N-linked (Glc) (glycation) lysine; alternate
62 – 62 N-linked (Glc) (glycation) lysine
54 – 72
A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid.
Alberti R.; Mariuzzi G.M.; Artibani L.; Bruni E.; Tentori L.;
Biochim. Biophys. Acta 342:1-4(1974)
Cited for: VARIANT J-ROVIGO ASP-54;
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.