Variant position: 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1581 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 GSQSS-----KVHIHHSTWLHFPGH N-------LRWILTFMLLFVLVCEIAEG
Rat GSQSS-----KVHIHHSTWLHFPGH N-------LRWILTFI
Slime mold NKKPDLFTLKQLSQDFQTWRKTLQL EVIVSILLVAWKILFF
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 – 1581 ATP-binding cassette sub-family C member 8
56 – 75 Cytoplasmic
51 – 1581 Missing. In isoform 3.
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S.; Flanagan S.E.; Girard C.A.; Patch A.M.; Harries L.W.; Parrish A.; Edghill E.L.; Mackay D.J.; Proks P.; Shimomura K.; Haberland H.; Carson D.J.; Shield J.P.; Hattersley A.T.; Ashcroft F.M.;
Am. J. Hum. Genet. 81:375-382(2007)
Cited for: VARIANTS PNDM3 LEU-45; SER-72; ALA-86; GLY-86; LEU-132; VAL-132; SER-207; LYS-208; GLU-209; LYS-211; PRO-225; ILE-229; ASP-263; LYS-382; GLU-1184; LYS-1326; ARG-1400 AND LEU-1522; CHARACTERIZATION OF VARIANTS PNDM3 LEU-132; SER-207; ILE-229; GLU-1184 AND LEU-1522;
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.