Variant position: 123 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 SHCLLVTLAAHLPAEFTPAV HASLDKFLASVSTVLTSKYR
Gorilla SHCLLVTLAAHLPAEFTPAV HASLDKFLASVSTVLTSKYR
Rhesus macaque SHCLLVTLAAHLPAEFTPAV HASLDKFLASVSTVLTSKYR
Chimpanzee SHCLLVTLAAHLPAEFTPAV HASLDKFLASVSTVLTSKYR
Mouse SHCLLVTLASHHPADFTPAV HASLDKFLASVSTVLTSKYR
Rat SHCLLVTLACHHPGDFTPAM HASLDKFLASVSTVLTSKYR
Pig SHCLLVTLAAHHPDDFNPSV HASLDKFLANVSTVLTSKYR
Bovine SHSLLVTLASHLPSDFTPAV HASLDKFLANVSTVLTSKYR
Rabbit SHCLLVTLANHHPSEFTPAV HASLDKFLANVSTVLTSKYR
Sheep SHSLLVTLACHLPNDFTPAV HASLDKFLANVSTVLTSKYR
Cat SHCLLVTLACHHPAEFTPAV HASLDKFFSAVSTVLTSKYR
Horse SHCLLSTLAVHLPNDFTPAV HASLDKFLSSVSTVLTSKYR
Chicken GQCFLVVVAIHHPAALTPEV HASLDKFLCAVGTVLTAKYR
Xenopus tropicalis AHQILVVVAIHFPKQFDPAT HKALDKFLVSVSNVLTSKYR
Zebrafish SHNVIVVIAMLFPADFTPEV HVSVDKFFNNLALALSEKYR
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
122 – 123 (Microbial infection) Cleavage; by N.americanus apr-2
103 – 103 Phosphoserine
109 – 109 Phosphothreonine
125 – 125 Phosphoserine
132 – 132 Phosphoserine
135 – 135 Phosphothreonine
138 – 138 Phosphothreonine
139 – 139 Phosphoserine
120 – 138
Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.
Jiang N.H.; Liang S.; Wen X.J.; Liang R.; Su C.; Tang Z.;
Cited for: VARIANT WESTMEAD GLN-123;
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.