Variant position: 130 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 LAAHLPAEFTPAVHASLDKF LASVSTVLTSKYR
Gorilla LAAHLPAEFTPAVHASLDKF LASVSTVLTSKYR
Rhesus macaque LAAHLPAEFTPAVHASLDKF LASVSTVLTSKYR
Chimpanzee LAAHLPAEFTPAVHASLDKF LASVSTVLTSKYR
Mouse LASHHPADFTPAVHASLDKF LASVSTVLTSKYR
Rat LACHHPGDFTPAMHASLDKF LASVSTVLTSKYR
Pig LAAHHPDDFNPSVHASLDKF LANVSTVLTSKYR
Bovine LASHLPSDFTPAVHASLDKF LANVSTVLTSKYR
Rabbit LANHHPSEFTPAVHASLDKF LANVSTVLTSKYR
Sheep LACHLPNDFTPAVHASLDKF LANVSTVLTSKYR
Cat LACHHPAEFTPAVHASLDKF FSAVSTVLTSKYR
Horse LAVHLPNDFTPAVHASLDKF LSSVSTVLTSKYR
Chicken VAIHHPAALTPEVHASLDKF LCAVGTVLTAKYR
Xenopus tropicalis VAIHFPKQFDPATHKALDKF LVSVSNVLTSKYR
Zebrafish IAMLFPADFTPEVHVSVDKF FNNLALALSEKYR
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.
Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype.
Darbellay R.; Mach-Pascual S.; Rose K.; Graf J.; Beris P.;
Br. J. Haematol. 90:71-76(1995)
Cited for: VARIANT TUNIS-BIZERTE PRO-130;
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.