Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 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 FVSKKGNCNVAHKNIREQGR FLQDVFTTLVDLKWPHTLLIF
Mouse FVSKKGNCNVAHKNIREQGR FLQDVFTTLVDLKWPHTLLIF
Rat FVSKKGNCNVAHKNIREQGR FLQDVFTTLVDLKWPHTLLIF
Rabbit FVSKKGNCNVAHKNIREQGR FLQDVFTTLVDLKWTHTLLIF
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 – 390 ATP-sensitive inward rectifier potassium channel 11
1 – 68 Cytoplasmic
1 – 87 Missing. In isoform 2.
64 – 64 V -> M. Displays gain of function; increased open state stability, reduced ATP sensitivity and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels.
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
Pinney S.E.; MacMullen C.; Becker S.; Lin Y.W.; Hanna C.; Thornton P.; Ganguly A.; Shyng S.L.; Stanley C.A.;
J. Clin. Invest. 118:2877-2886(2008)
Cited for: INVOLVEMENT IN HHF2; VARIANTS HHF2 LEU-55; ARG-156 AND GLU-204;
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.
Lin Y.-W.; MacMullen C.; Ganguly A.; Stanley C.A.; Shyng S.-L.;
J. Biol. Chem. 281:3006-3012(2006)
Cited for: VARIANT HHF2 LEU-55; CHARACTERIZATION OF VARIANT HHF2 LEU-55;
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.