Sequence information
Variant position: 127 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:
LVTLAAHLPAEFTPAVHASL
D KFLASVSTVLTSKYR
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 LVTLAAHLPAEFTPAVHASLD KFLASVSTVLTSKYR
Gorilla LVTLAAHLPAEFTPAVHASLD KFLASVSTVLTSKYR
LVTLACHHPTEFTPAVHASLD KFFAAVSTVLTSKYR
Rhesus macaque LVTLAAHLPAEFTPAVHASLD KFLASVSTVLTSKYR
Chimpanzee LVTLAAHLPAEFTPAVHASLD KFLASVSTVLTSKYR
Mouse LVTLASHHPADFTPAVHASLD KFLASVSTVLTSKYR
Rat LVTLACHHPGDFTPAMHASLD KFLASVSTVLTSKYR
Pig LVTLAAHHPDDFNPSVHASLD KFLANVSTVLTSKYR
Bovine LVTLASHLPSDFTPAVHASLD KFLANVSTVLTSKYR
Rabbit LVTLANHHPSEFTPAVHASLD KFLANVSTVLTSKYR
Sheep LVTLACHLPNDFTPAVHASLD KFLANVSTVLTSKYR
Cat LVTLACHHPAEFTPAVHASLD KFFSAVSTVLTSKYR
Horse LSTLAVHLPNDFTPAVHASLD KFLSSVSTVLTSKYR
Chicken LVVVAIHHPAALTPEVHASLD KFLCAVGTVLTAKYR
Xenopus tropicalis LVVVAIHFPKQFDPATHKALD KFLVSVSNVLTSKYR
Zebrafish IVVIAMLFPADFTPEVHVSVD KFFNNLALALSEKYR
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
Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption.
Wajcman H.; Kister J.; Galacteros F.; Spielvogel A.; Lin M.J.; Vidugiris G.J.; Hirsch R.E.; Friedman J.M.; Nagel R.L.;
J. Biol. Chem. 271:22990-22998(1996)
Cited for: VARIANT MONTEFIORE TYR-127;
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.