Variant position: 111 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 EGILSDGVTESHHLHLYMPA GMAFMAAVTSVVYYHNIETSN
Rat EGILSDGVTESRHLHLYMPA GMAFMAAITSVVYYHNIETSN
Slime mold FEILYSVVT---VVQWTVSL GLVYLEMKKGQSRSWEIR---
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
102 – 122 Helical; Name=3
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;
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Fernandez-Marmiesse A.; Salas A.; Vega A.; Fernandez-Lorenzo J.R.; Barreiro J.; Carracedo A.;
Hum. Mutat. 27:214-214(2006)
Cited for: VARIANTS HHF1 TRP-74; ARG-111; SER-188; ARG-233; ASN-310; ARG-551; THR-719; PRO-1130; ARG-1147; LYS-1295 AND PRO-1450; VARIANTS SER-1369 AND ILE-1572;
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.