Sequence information
Variant position: 49 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:
ALERMFLSFPTTKTYFPHFD
L SHGSAQVKGHGKKVADALTN
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 ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGKKVADALTN
Gorilla ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGKKVADALT
ALDRTFQSFPTTKTYFPHF-DL SPGSAQVKAHGKKVADALT
Rhesus macaque ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGKKVADALT
Chimpanzee ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGKKVADALT
Mouse ALERMFASFPTTKTYFPHF-DV SHGSAQVKGHGKKVADALA
Rat ALQRMFAAFPTTKTYFSHI-DV SPGSAQVKAHGKKVADALA
Pig ALERMFLGFPTTKTYFPHF-NL SHGSDQVKAHGQKVADALT
Bovine ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGAKVAAALT
Rabbit AVERMFLGFPTTKTYFPHF-DF THGSEQIKAHGKKVSEALT
Sheep ALERMFLSFPTTKTYFPHF-DL SHGSAQVKGHGEKVAAALT
Cat ALERTFCSFPTTKTYFPHF-DL SHGSAQVKAHGQKVADALT
Horse ALERMFLGFPTTKTYFPHF-DL SHGSAQVKAHGKKVGDALT
Chicken TLERMFTTYPPTKTYFPHF-DL SHGSAQIKGHGKKVVAALI
Xenopus tropicalis ALHRMFMCAPKTKTYFPDF-DF SEHSKHILAHGKKVSDALN
Zebrafish ALARMLTVYPQTKTYFSHWADL SPGSGPVKKHGKTIMGAVG
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 – 142
Hemoglobin subunit alpha
Metal binding
59 – 59
Iron (heme b distal ligand)
Site
48 – 49
(Microbial infection) Cleavage; by N.americanus apr-2
Site
57 – 57
Not glycated
Site
61 – 61
Not glycated
Modified residue
36 – 36
Phosphoserine
Modified residue
41 – 41
N6-succinyllysine; alternate
Modified residue
50 – 50
Phosphoserine
Glycosylation
41 – 41
N-linked (Glc) (glycation) lysine; alternate
Glycosylation
62 – 62
N-linked (Glc) (glycation) lysine
Literature citations
Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).
Brimhall B.; Jones R.T.; Schneider R.G.; Hosty T.S.; Tomlin G.; Atkins R.;
Biochim. Biophys. Acta 379:28-32(1975)
Cited for: VARIANT MONTGOMERY ARG-49;
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.