Variant position: 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 110 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 SLQPLALEGSLQKRGIVEQC CTSICSLYQLENYCN
Gorilla SLQPLALEGSLQKRGIVEQC CTSICSLYQLENYCN
Chimpanzee SLQPLALEGSLQKRGIVEQC CTSICSLYQLENYCN
Pig GLQALALEGPPQKRGIVEQC CTSICSLYQLENYCN
Bovine GL-----EGPPQKRGIVEQC CASVCSLYQLENYCN
Rabbit GLQPSALELALQKRGIVEQC CTSICSLYQLENYCN
Goat --------------GIVEQC CAGVCSLYQLENYCN
Sheep GL-----EGPPQKRGIVEQC CAGVCSLYQLENYCN
Cat GLQPSALEAPLQKRGIVEQC CASVCSLYQLEHYCN
Horse GLQPLALAGPQQXXGIVEQC CTGICSLYQLENYCN
Chicken VLPFQQEEYEKVKRGIVEQC CHNTCSLYQLENYCN
Zebrafish DFAFKDHAELIRKRGIVEQC CHKPCSIFELQNYCN
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
90 – 110 Insulin A chain
31 – 96 Interchain (between B and A chains)
43 – 109 Interchain (between B and A chains)
95 – 100
91 – 97
Insulin gene mutations as a cause of permanent neonatal diabetes.
Stoy J.; Edghill E.L.; Flanagan S.E.; Ye H.; Paz V.P.; Pluzhnikov A.; Below J.E.; Hayes M.G.; Cox N.J.; Lipkind G.M.; Lipton R.B.; Greeley S.A.; Patch A.M.; Ellard S.; Steiner D.F.; Hattersley A.T.; Philipson L.H.; Bell G.I.;
Proc. Natl. Acad. Sci. U.S.A. 104:15040-15044(2007)
Cited for: VARIANTS PNDM ASP-24; ARG-32; SER-32; GLY-43; VAL-47; CYS-48; CYS-89; CYS-90; TYR-96 AND CYS-108;
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill E.L.; Flanagan S.E.; Patch A.M.; Boustred C.; Parrish A.; Shields B.; Shepherd M.H.; Hussain K.; Kapoor R.R.; Malecki M.; MacDonald M.J.; Stoy J.; Steiner D.F.; Philipson L.H.; Bell G.I.; Hattersley A.T.; Ellard S.;
Cited for: VARIANTS PNDM ASP-24; ASP-29; ARG-32; SER-32; PRO-35; GLY-43; VAL-47; CYS-48; ARG-84; CYS-89; CYS-90; SER-96; TYR-96; CYS-101; CYS-103 AND CYS-108; VARIANT MODY10 CYS-6; VARIANT MET-68;
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.