Sequence information
Variant position: 132 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:
AHLPAEFTPAVHASLDKFLA
S VSTVLTSKYR
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 AHLPAEFTPAVHASLDKFLAS VSTVLTSKYR
Gorilla AHLPAEFTPAVHASLDKFLAS VSTVLTSKYR
CHHPTEFTPAVHASLDKFFAA VSTVLTSKYR
Rhesus macaque AHLPAEFTPAVHASLDKFLAS VSTVLTSKYR
Chimpanzee AHLPAEFTPAVHASLDKFLAS VSTVLTSKYR
Mouse SHHPADFTPAVHASLDKFLAS VSTVLTSKYR
Rat CHHPGDFTPAMHASLDKFLAS VSTVLTSKYR
Pig AHHPDDFNPSVHASLDKFLAN VSTVLTSKYR
Bovine SHLPSDFTPAVHASLDKFLAN VSTVLTSKYR
Rabbit NHHPSEFTPAVHASLDKFLAN VSTVLTSKYR
Sheep CHLPNDFTPAVHASLDKFLAN VSTVLTSKYR
Cat CHHPAEFTPAVHASLDKFFSA VSTVLTSKYR
Horse VHLPNDFTPAVHASLDKFLSS VSTVLTSKYR
Chicken IHHPAALTPEVHASLDKFLCA VGTVLTAKYR
Xenopus tropicalis IHFPKQFDPATHKALDKFLVS VSNVLTSKYR
Zebrafish MLFPADFTPEVHVSVDKFFNN LALALSEKYR
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
Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).
Wajcman H.; Vasseur C.; Blouquit Y.; Rosa J.; Labie D.; Najman A.; Reman O.; Leporrier M.; Galacteros F.;
Am. J. Hematol. 42:367-374(1993)
Cited for: VARIANT QUESTEMBERT PRO-132;
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.