Variant position: 60 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 TKTYFPHF-DLSHGSAQVKGH GKKVADALTNAVAHVDDMPNA
Gorilla TKTYFPHF-DLSHGSAQVKGH GKKVADALTNAVAHVDDMPN
Rhesus macaque TKTYFPHF-DLSHGSAQVKGH GKKVADALTLAVGHVDDMPN
Chimpanzee TKTYFPHF-DLSHGSAQVKGH GKKVADALTNAVAHVDDMPN
Mouse TKTYFPHF-DVSHGSAQVKGH GKKVADALASAAGHLDDLPG
Rat TKTYFSHI-DVSPGSAQVKAH GKKVADALAKAADHVEDLPG
Pig TKTYFPHF-NLSHGSDQVKAH GQKVADALTKAVGHLDDLPG
Bovine TKTYFPHF-DLSHGSAQVKGH GAKVAAALTKAVEHLDDLPG
Rabbit TKTYFPHF-DFTHGSEQIKAH GKKVSEALTKAVGHLDDLPG
Sheep TKTYFPHF-DLSHGSAQVKGH GEKVAAALTKAVGHLDDLPG
Cat TKTYFPHF-DLSHGSAQVKAH GQKVADALTQAVAHMDDLPT
Horse TKTYFPHF-DLSHGSAQVKAH GKKVGDALTLAVGHLDDLPG
Chicken TKTYFPHF-DLSHGSAQIKGH GKKVVAALIEAANHIDDIAG
Xenopus tropicalis TKTYFPDF-DFSEHSKHILAH GKKVSDALNEACNHLDNIAG
Zebrafish TKTYFSHWADLSPGSGPVKKH GKTIMGAVGEAISKIDDLVG
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)
57 – 57 Not glycated
60 – 61 (Microbial infection) Cleavage; by N.americanus apr-2
61 – 61 Not glycated
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
Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.
Cueruek M.A.; Dimovski A.J.; Baysal E.; Gu L.H.; Kutlar F.; Molchanova T.P.; Webber B.B.; Altay C.; Guergey A.; Huisman T.H.;
Am. J. Hematol. 44:270-275(1993)
Cited for: VARIANT ADANA ASP-60;
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.