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:
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 KKQLVEIEKVVLHPNYSQVD IGLIKLKQKVSVNERVMPICL
Mouse KNQLVEIEKVVLHPNHSVVD IGLIKLKQRVLVTERVMPICL
Rat KNQLVEIEKVVLHPERSVVD IGLIKLKQKVLVTEKVMPICL
Pig KKQEVEIEKVIFHPDNSTVD IGLIKLKQKVPVNERVMPICL
Bovine KNQLVEVEKVVLHPDHSKVD IGLIKLRQKVPVNDKVMPICL
Rabbit RRQLVEIEKVVLHPNYSEVD IGLIKLKDKVPVNERVMPICL
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
19 – 406 Haptoglobin
162 – 406 Haptoglobin beta chain
162 – 404 Peptidase S1
241 – 241 N-linked (GlcNAc...) (complex) asparagine
149 – 266 Interchain (between alpha and beta chains)
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;
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.