Variant position: 34 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 LALWGPDPAAAFVNQHLCGS HLVEALYLVCGERGFFYTPKT
Gorilla LALWGPDPAAAFVNQHLCGS HLVEALYLVCGERGFFYTPKT
Chimpanzee LALWGPDPASAFVNQHLCGS HLVEALYLVCGERGFFYTPKT
Pig LALWAPAPAQAFVNQHLCGS HLVEALYLVCGERGFFYTPKA
Bovine LALWPPPPARAFVNQHLCGS HLVEALYLVCGERGFFYTPKA
Rabbit LVLCRLDPAQAFVNQHLCGS HLVEALYLVCGERGFFYTPKS
Goat -----------FVNQHLCGS HLVEALYLVCGERGFFYTPKA
Sheep LALWAPAPAHAFVNQHLCGS HLVEALYLVCGERGFFYTPKA
Cat LSLWIPAPTRAFVNQHLCGS HLVEALYLVCGERGFFYTPKA
Dog LALWAPAPTRAFVNQHLCGS HLVEALYLVCGERGFFYTPKA
Horse -----------FVNQHLCGS HLVEALYLVCGERGFFYTPKA
Chicken LVFSGPGTSYAAANQHLCGS HLVEALYLVCGERGFFYSPKA
Zebrafish LVVSSVSTNPG-TPQHLCGS HLVDALYLVCGPTGFFYNPK-
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)
33 – 43
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.
Chan S.J.; Seino S.; Gruppuso P.A.; Schwartz R.; Steiner D.F.;
Proc. Natl. Acad. Sci. U.S.A. 84:2194-2197(1987)
Cited for: VARIANT FHPRI ASP-34;
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.