Variant position: 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 DYMSKQNGGEGGIIINMSSL AGLMPVAQQPVYCASKHGIVG
Mouse DYMSKQNGGEGGIIINMSSL AGLMPVAQQPVYCASKHGIIG
Rat DYMSKQNGGEGGIIINISSI AGLMPVAQQPVYCASKHGIIG
Bovine DYMSKQNGGEGGININMSSL AGLMPVAQQPVYCASKHGIVG
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
1 – 266 15-hydroxyprostaglandin dehydrogenase [NAD(+)]
151 – 151 Proton acceptor
138 – 138 Substrate
148 – 148 Substrate
73 – 140 Missing. In isoform 5.
140 – 143 AGLM -> AAHH. In isoform 4.
148 – 148 Q -> A. Loss of activity.
148 – 148 Q -> EHN. Reduced affinity for NAD and prostaglandin E2.
151 – 151 Y -> A. Loss of activity.
151 – 151 Y -> F. Loss 15-hydroxyprostaglandin dehydrogenase activity.
155 – 155 K -> Q. Loss 15-hydroxyprostaglandin dehydrogenase activity.
139 – 141
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Uppal S.; Diggle C.P.; Carr I.M.; Fishwick C.W.G.; Ahmed M.; Ibrahim G.H.; Helliwell P.S.; Latos-Bielenska A.; Phillips S.E.V.; Markham A.F.; Bennett C.P.; Bonthron D.T.;
Nat. Genet. 40:789-793(2008)
Cited for: INVOLVEMENT IN PHOAR1; VARIANT COA PRO-140; CHARACTERIZATION OF VARIANT COA PRO-140;
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.