Variant position: 221 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 244 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 VLLHLEVGDQVWLQVYGEGE RNGLYADNDNDSTFTGFLLYH
Mouse VLLHLEVGDQVWLQVYGDGD HNGLYADNVNDSTFTGFLLYH
Bovine VLLYLEKGDQVWLQVYEGEN HNGVYADNVNDSTFTGFLLYH
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.
Genetic variation in the gene encoding adiponectin is associated with an increased risk of type 2 diabetes in the Japanese population.
Hara K.; Boutin P.; Mori Y.; Tobe K.; Dina C.; Yasuda K.; Yamauchi T.; Otabe S.; Okada T.; Eto K.; Kadowaki H.; Hagura R.; Akanuma Y.; Yazaki Y.; Nagai R.; Taniyama M.; Matsubara K.; Yoda M.; Nakano Y.; Kimura S.; Tomita M.; Kimura S.; Ito C.; Froguel P.; Kadowaki T.;
Cited for: VARIANTS ARG-84; MET-117; THR-164; SER-221 AND PRO-241;
Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulin resistance syndrome.
Kondo H.; Shimomura I.; Matsukawa Y.; Kumada M.; Takahashi M.; Matsuda M.; Ouchi N.; Kihara S.; Kawamoto T.; Sumitsuji S.; Funahashi T.; Matsuzawa Y.;
Cited for: VARIANTS CYS-112; THR-164; SER-221 AND PRO-241; ASSOCIATION WITH LOW PLASMA ADIPONECTIN CONCENTRATION AND DIABETES MELLITUS TYPE 2;
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.