Sequence information
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:
LAAHLPAEFTPAVHASLDKF
L ASVSTVLTSKYR
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 LAAHLPAEFTPAVHASLDKFL ASVSTVLTSKYR
Gorilla LAAHLPAEFTPAVHASLDKFL ASVSTVLTSKYR
LACHHPTEFTPAVHASLDKFF AAVSTVLTSKYR
Rhesus macaque LAAHLPAEFTPAVHASLDKFL ASVSTVLTSKYR
Chimpanzee LAAHLPAEFTPAVHASLDKFL ASVSTVLTSKYR
Mouse LASHHPADFTPAVHASLDKFL ASVSTVLTSKYR
Rat LACHHPGDFTPAMHASLDKFL ASVSTVLTSKYR
Pig LAAHHPDDFNPSVHASLDKFL ANVSTVLTSKYR
Bovine LASHLPSDFTPAVHASLDKFL ANVSTVLTSKYR
Rabbit LANHHPSEFTPAVHASLDKFL ANVSTVLTSKYR
Sheep LACHLPNDFTPAVHASLDKFL ANVSTVLTSKYR
Cat LACHHPAEFTPAVHASLDKFF SAVSTVLTSKYR
Horse LAVHLPNDFTPAVHASLDKFL SSVSTVLTSKYR
Chicken VAIHHPAALTPEVHASLDKFL CAVGTVLTAKYR
Xenopus tropicalis VAIHFPKQFDPATHKALDKFL VSVSNVLTSKYR
Zebrafish IAMLFPADFTPEVHVSVDKFF NNLALALSEKYR
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.
Literature citations
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;
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.