Variant position: 104 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 LSDLHAHKLRVDPVNFKLLS HCLLVTLAAHLPAEFTPAVHA
Gorilla LSDLHAHKLRVDPVNFKLLS HCLLVTLAAHLPAEFTPAVHA
Rhesus macaque LSDLHAHKLRVDPVNFKLLS HCLLVTLAAHLPAEFTPAVHA
Chimpanzee LSDLHAHKLRVDPVNFKLLS HCLLVTLAAHLPAEFTPAVHA
Mouse LSDLHAHKLRVDPVNFKLLS HCLLVTLASHHPADFTPAVHA
Rat LSDLHAHKLRVDPVNFKFLS HCLLVTLACHHPGDFTPAMHA
Pig LSDLHAHKLRVDPVNFKLLS HCLLVTLAAHHPDDFNPSVHA
Bovine LSDLHAHKLRVDPVNFKLLS HSLLVTLASHLPSDFTPAVHA
Rabbit LSDLHAHKLRVDPVNFKLLS HCLLVTLANHHPSEFTPAVHA
Sheep LSDLHAHKLRVDPVNFKLLS HSLLVTLACHLPNDFTPAVHA
Cat LSDLHAYKLRVDPVNFKFLS HCLLVTLACHHPAEFTPAVHA
Horse LSDLHAHKLRVDPVNFKLLS HCLLSTLAVHLPNDFTPAVHA
Chicken LSDLHAHKLRVDPVNFKLLG QCFLVVVAIHHPAALTPEVHA
Xenopus tropicalis LSDLHAYDLRVDPGNFPLLA HQILVVVAIHFPKQFDPATHK
Zebrafish LSELHAFKLRVDPANFKILS HNVIVVIAMLFPADFTPEVHV
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.
Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb Charolles [alpha103(G10)His-Tyr, alpha1].
Lacan P.; Francina A.; Souillet G.; Aubry M.; Couprie N.; Dementhon L.; Becchi M.;
Cited for: VARIANT BOGHE GLN-59; VARIANT CHAROLLES TYR-104;
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