Variant position: 32 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 ALLALWGPDPAAAFVNQHLC GSHLVEALYLVCGERGFFYTP
Gorilla ALLALWGPDPAAAFVNQHLC GSHLVEALYLVCGERGFFYTP
Chimpanzee VLLALWGPDPASAFVNQHLC GSHLVEALYLVCGERGFFYTP
Pig ALLALWAPAPAQAFVNQHLC GSHLVEALYLVCGERGFFYTP
Bovine ALLALWPPPPARAFVNQHLC GSHLVEALYLVCGERGFFYTP
Rabbit ALLVLCRLDPAQAFVNQHLC GSHLVEALYLVCGERGFFYTP
Goat -------------FVNQHLC GSHLVEALYLVCGERGFFYTP
Sheep ALLALWAPAPAHAFVNQHLC GSHLVEALYLVCGERGFFYTP
Cat ALLSLWIPAPTRAFVNQHLC GSHLVEALYLVCGERGFFYTP
Horse -------------FVNQHLC GSHLVEALYLVCGERGFFYTP
Chicken ALLVFSGPGTSYAAANQHLC GSHLVEALYLVCGERGFFYSP
Zebrafish VLLVVSSVSTNPG-TPQHLC GSHLVDALYLVCGPTGFFYNP
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
25 – 54 Insulin B chain
31 – 96 Interchain (between B and A chains)
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.