Sequence information
Variant position: 247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 406 The length of the canonical sequence.
Location on the sequence:
KKQLVEIEKVVLHPNYSQVD
I GLIKLKQKVSVNERVMPICL
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 KKQLVEIEKVVLHPNYSQVDI GLIKLKQKVSVNERVMPICL
KNQLVEVEKVVLHPDYSKVDI GLIKLKQKVPIDERVMPICL
Mouse KNQLVEIEKVVLHPNHSVVDI GLIKLKQRVLVTERVMPICL
Rat KNQLVEIEKVVLHPERSVVDI GLIKLKQKVLVTEKVMPICL
Pig KKQEVEIEKVIFHPDNSTVDI GLIKLKQKVPVNERVMPICL
Bovine KNQLVEVEKVVLHPDHSKVDI GLIKLRQKVPVNDKVMPICL
Rabbit RRQLVEIEKVVLHPNYSEVDI GLIKLKDKVPVNERVMPICL
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.
Type Positions Description
Chain
19 – 406
Haptoglobin
Chain
162 – 406
Haptoglobin beta chain
Domain
162 – 404
Peptidase S1
Glycosylation
241 – 241
N-linked (GlcNAc...) (complex) asparagine
Disulfide bond
149 – 266
Interchain (between alpha and beta chains)
Literature citations
A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.
Teye K.; Quaye I.K.; Koda Y.; Soejima M.; Pang H.; Tsuneoka M.; Amoah A.G.; Adjei A.; Kimura H.;
Hum. Genet. 114:499-502(2004)
Cited for: VARIANT AHP THR-247; CHARACTERIZATION OF VARIANT AHP THR-247;
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.