Variant position: 55 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 LVEALYLVCGERGFFYTPKT RREAEDLQVG--QVELGGGPGAG
Gorilla LVEALYLVCGERGFFYTPKT RREAEDLQVG--QVELGGGPG
Chimpanzee LVEALYLVCGERGFFYTPKT RREAEDLQVG--QVELGGGPG
Pig LVEALYLVCGERGFFYTPKA RREAENPQAG--AVELGG--G
Bovine LVEALYLVCGERGFFYTPKA RREVEGPQVG--ALELAGGPG
Rabbit LVEALYLVCGERGFFYTPKS RREVEELQVG--QAELGGGPG
Goat LVEALYLVCGERGFFYTPKA ---------------------
Sheep LVEALYLVCGERGFFYTPKA RREVEGPQVG--ALELAGGPG
Cat LVEALYLVCGERGFFYTPKA RREAEDLQGK--DAELGEAPG
Dog LVEALYLVCGERGFFYTPKA RREVEDLQVR--DVELAGAPG
Horse LVEALYLVCGERGFFYTPKA XXEAEDPQVG--EVELGGGPG
Chicken LVEALYLVCGERGFFYSPKA RRDVEQPLVS--SPLRGE---
Zebrafish LVDALYLVCGPTGFFYNPK- -RDVE-PLLGFLPPKSAQETE
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
31 – 96 Interchain (between B and A chains)
43 – 109 Interchain (between B and A chains)
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A.; Ringdal M.; Nordbo A.M.; Raeder H.; Stoy J.; Lipkind G.M.; Steiner D.F.; Philipson L.H.; Bergmann I.; Aarskog D.; Undlien D.E.; Joner G.; Sovik O.; Bell G.I.; Njolstad P.R.;
Cited for: VARIANT MODY10 GLN-46; VARIANT IDDM2 CYS-55;
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.