Variant position: 1418 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 FEGHIIIDGIDIAKLPLHTL RSRLSIILQDPVLFSGTIRFN
Rat FEGRIIIDGIDIAKLPLHTL RSRLSIILQDPVLFSGTIRFN
Slime mold LRGTIEIDGIDITELGLNPL RSRMAIIPQDPVLFAGSVRYN
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
1298 – 1581 Cytoplasmic
1344 – 1578 ABC transporter 2
51 – 1581 Missing. In isoform 3.
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S.; Crane A.; Cosgrove K.E.; Hussain K.; Lavie J.; Heyman M.; Nesher Y.; Kuchinski N.; Ben-Shushan E.; Shatz O.; Nahari E.; Potikha T.; Zangen D.; Tenenbaum-Rakover Y.; de Vries L.; Argente J.; Gracia R.; Landau H.; Eliakim A.; Lindley K.; Dunne M.J.; Aguilar-Bryan L.; Glaser B.;
J. Clin. Endocrinol. Metab. 89:6224-6234(2004)
Cited for: VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493; CHARACTERIZATION OF VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493;
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
Harel S.; Cohen A.S.; Hussain K.; Flanagan S.E.; Schlade-Bartusiak K.; Patel M.; Courtade J.; Li J.B.; Van Karnebeek C.; Kurata H.; Ellard S.; Chanoine J.P.; Gibson W.T.;
J. Pediatr. Endocrinol. Metab. 28:345-351(2015)
Cited for: VARIANT HHF1 HIS-1418; CHARACTERIZATION OF VARIANT HHF1 HIS-1418; FUNCTION;
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