Sequence information
Variant position: 86 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:
ALTNAVAHVDDMPNALSALS
D LHAHKLRVDPVNFKLLSHCL
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 ALTNAVAHVDDMPNALSALSD LHAHKLRVDPVNFKLLSHCL
Gorilla ALTNAVAHVDDMPNALSALSD LHAHKLRVDPVNFKLLSHCL
ALTTAVAHLDDLPGALSALSD LHAYKLRVDPVNFKLLSHCL
Rhesus macaque ALTLAVGHVDDMPNALSALSD LHAHKLRVDPVNFKLLSHCL
Chimpanzee ALTNAVAHVDDMPNALSALSD LHAHKLRVDPVNFKLLSHCL
Mouse ALASAAGHLDDLPGALSALSD LHAHKLRVDPVNFKLLSHCL
Rat ALAKAADHVEDLPGALSTLSD LHAHKLRVDPVNFKFLSHCL
Pig ALTKAVGHLDDLPGALSALSD LHAHKLRVDPVNFKLLSHCL
Bovine ALTKAVEHLDDLPGALSELSD LHAHKLRVDPVNFKLLSHSL
Rabbit ALTKAVGHLDDLPGALSTLSD LHAHKLRVDPVNFKLLSHCL
Sheep ALTKAVGHLDDLPGTLSDLSD LHAHKLRVDPVNFKLLSHSL
Cat ALTQAVAHMDDLPTAMSALSD LHAYKLRVDPVNFKFLSHCL
Horse ALTLAVGHLDDLPGALSNLSD LHAHKLRVDPVNFKLLSHCL
Chicken ALIEAANHIDDIAGTLSKLSD LHAHKLRVDPVNFKLLGQCF
Xenopus tropicalis ALNEACNHLDNIAGCLSKLSD LHAYDLRVDPGNFPLLAHQI
Zebrafish AVGEAISKIDDLVGGLAALSE LHAFKLRVDPANFKILSHNV
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 Inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family.
Reed R.E.; Winter W.P.; Rucknagel D.L.;
Br. J. Haematol. 26:475-484(1974)
Cited for: VARIANT INKSTER VAL-86;
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.