Variant position: 6 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 MVLSP ADKTNVKAAWGKVGAHAGEYG
Gorilla -VLSP ADKTNVKAAWGKVGAHAGDYG
Rhesus macaque MVLSP ADKSNVKAAWGKVGGHAGEYG
Chimpanzee MVLSP ADKTNVKAAWGKVGAHAGEYG
Mouse MVLSG EDKSNIKAAWGKIGGHGAEYG
Rat MVLSA DDKTNIKNCWGKIGGHGGEYG
Pig -VLSA ADKANVKAAWGKVGGQAGAHG
Bovine MVLSA ADKGNVKAAWGKVGGHAAEYG
Rabbit MVLSP ADKTNIKTAWEKIGSHGGEYG
Sheep MVLSA ADKSNVKAAWGKVGGNAGAYG
Cat -VLSA ADKSNVKACWGKIGSHAGEYG
Horse MVLSA ADKTNVKAAWSKVGGHAGEYG
Chicken MVLSA ADKNNVKGIFTKIAGHAEEYG
Xenopus tropicalis MHLTA DDKKHIKAIWPSVAAHGDKYG
Zebrafish MSLSD TDKAVVKAIWAKISPKADEIG
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
1 – 1 Removed
2 – 142 Hemoglobin subunit alpha
12 – 12 Not glycated
4 – 4 Phosphoserine
8 – 8 N6-succinyllysine; alternate
9 – 9 Phosphothreonine
12 – 12 N6-succinyllysine
17 – 17 N6-acetyllysine; alternate
17 – 17 N6-succinyllysine; alternate
25 – 25 Phosphotyrosine
8 – 8 N-linked (Glc) (glycation) lysine; alternate
17 – 17 N-linked (Glc) (glycation) lysine; alternate
5 – 18
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;
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.