Variant position: 126 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 LLVTLAAHLPAEFTPAVHAS LDKFLASVSTVLTSKYR
Gorilla LLVTLAAHLPAEFTPAVHAS LDKFLASVSTVLTSKYR
Rhesus macaque LLVTLAAHLPAEFTPAVHAS LDKFLASVSTVLTSKYR
Chimpanzee LLVTLAAHLPAEFTPAVHAS LDKFLASVSTVLTSKYR
Mouse LLVTLASHHPADFTPAVHAS LDKFLASVSTVLTSKYR
Rat LLVTLACHHPGDFTPAMHAS LDKFLASVSTVLTSKYR
Pig LLVTLAAHHPDDFNPSVHAS LDKFLANVSTVLTSKYR
Bovine LLVTLASHLPSDFTPAVHAS LDKFLANVSTVLTSKYR
Rabbit LLVTLANHHPSEFTPAVHAS LDKFLANVSTVLTSKYR
Sheep LLVTLACHLPNDFTPAVHAS LDKFLANVSTVLTSKYR
Cat LLVTLACHHPAEFTPAVHAS LDKFFSAVSTVLTSKYR
Horse LLSTLAVHLPNDFTPAVHAS LDKFLSSVSTVLTSKYR
Chicken FLVVVAIHHPAALTPEVHAS LDKFLCAVGTVLTAKYR
Xenopus tropicalis ILVVVAIHFPKQFDPATHKA LDKFLVSVSNVLTSKYR
Zebrafish VIVVIAMLFPADFTPEVHVS VDKFFNNLALALSEKYR
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.
A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2).
Martin G.; Villegas A.; Gonzalez F.A.; Ropero P.; Hojas R.; Polo M.; Mateo M.; Salvador M.; Benavente C.;
Cited for: VARIANT PLASENCIA ARG-126;
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