Sequence information
Variant position: 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 147 The length of the canonical sequence.
Location on the sequence:
ALGRLLVVYPWTQRFFESFG
D LSTPDAVMGNPKVKAHGKKV
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 ALGRLLVVYPWTQRFFESFGD LSTPDAVMGNPKVKAHGKKV
Gorilla ALGRLLVVYPWTQRFFESFGD LSTPDAVMGNPKVKAHGKKV
Rhesus macaque ALGRLLLVYPWTQRFFESFGD LSSPDAVMGNPKVKAHGKKV
Chimpanzee ALGRLLVVYPWTQRFFESFGD LSTPDAVMGNPKVKAHGKKV
Pig ALGRLLVVYPWTQRFFESFGD LSNADAVMGNPKVKAHGKKV
Bovine ALGRLLVVYPWTQRFFESFGD LSTADAVMNNPKVKAHGKKV
Rabbit ALGRLLVVYPWTQRFFESFGD LSSANAVMNNPKVKAHGKKV
Sheep ALGRLLVVYPWTQRFFEHFGD LSNADAVMNNPKVKAHGKKV
Cat ALGRLLVVYPWTQRFFESFGD LSSADAIMSNAKVKAHGKKV
Horse ALGRLLVVYPWTQRFFDSFGD LSNPGAVMGNPKVKAHGKKV
Chicken ALARLLIVYPWTQRFFASFGN LSSPTAILGNPMVRAHGKKV
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 – 147
Hemoglobin subunit beta
Binding site
64 – 64
distal binding residue
Site
60 – 60
Not glycated
Modified residue
45 – 45
Phosphoserine
Modified residue
51 – 51
Phosphothreonine
Modified residue
60 – 60
N6-acetyllysine
Glycosylation
67 – 67
N-linked (Glc) (glycation) lysine
Literature citations
Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).
Marinucci M.; Boissel J.P.; Massa A.; Wajcman H.; Tentori L.; Labie D.;
Hemoglobin 7:423-433(1983)
Cited for: VARIANT MAPUTO TYR-48;
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.