Sequence information
Variant position: 12 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:
MVLSPADKTNV
K AAWGKVGAHAGEYGAEALER
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 MVLSPADKTNVK AAWGKVGAHAGEYGAEALER
Gorilla -VLSPADKTNVK AAWGKVGAHAGDYGAEALER
-VLSPADKTNIK STWDKIGGHAGDYGGEALDR
Rhesus macaque MVLSPADKSNVK AAWGKVGGHAGEYGAEALER
Chimpanzee MVLSPADKTNVK AAWGKVGAHAGEYGAEALER
Mouse MVLSGEDKSNIK AAWGKIGGHGAEYGAEALER
Rat MVLSADDKTNIK NCWGKIGGHGGEYGEEALQR
Pig -VLSAADKANVK AAWGKVGGQAGAHGAEALER
Bovine MVLSAADKGNVK AAWGKVGGHAAEYGAEALER
Rabbit MVLSPADKTNIK TAWEKIGSHGGEYGAEAVER
Sheep MVLSAADKSNVK AAWGKVGGNAGAYGAEALER
Cat -VLSAADKSNVK ACWGKIGSHAGEYGAEALER
Horse MVLSAADKTNVK AAWSKVGGHAGEYGAEALER
Chicken MVLSAADKNNVK GIFTKIAGHAEEYGAETLER
Xenopus tropicalis MHLTADDKKHIK AIWPSVAAHGDKYGGEALHR
Zebrafish MSLSDTDKAVVK AIWAKISPKADEIGAEALAR
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
Initiator methionine
1 – 1
Removed
Chain
2 – 142
Hemoglobin subunit alpha
Site
12 – 12
Not glycated
Modified residue
4 – 4
Phosphoserine
Modified residue
8 – 8
N6-succinyllysine; alternate
Modified residue
9 – 9
Phosphothreonine
Modified residue
12 – 12
N6-succinyllysine
Modified residue
17 – 17
N6-acetyllysine; alternate
Modified residue
17 – 17
N6-succinyllysine; alternate
Modified residue
25 – 25
Phosphotyrosine
Glycosylation
8 – 8
N-linked (Glc) (glycation) lysine; alternate
Glycosylation
17 – 17
N-linked (Glc) (glycation) lysine; alternate
Helix
5 – 18
Literature citations
A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu].
Yalcin A.; Avcu F.; Beyan C.; Guergey A.; Ural A.U.;
Hemoglobin 18:433-435(1994)
Cited for: VARIANT J-MEERUT/J-BIRMINGHAM GLU-121;
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.