Variant position: 112 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 RGFPGIQGRKGEPGEGAYVY RSAFSVGLETYVTIPNMPIRF
Mouse RGFPGTPGRKGEPGEAAYVY RSAFSVGLETRVTVPNVPIRF
Bovine RGFPGTPGRKGEPGESAYVY RSAFSVGLERQVTVPNVPIRF
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
19 – 244 Adiponectin
108 – 244 C1q
104 – 104 Not hydroxylated
95 – 95 4-hydroxyproline; partial
101 – 101 5-hydroxylysine
101 – 101 O-linked (Gal...) hydroxylysine; partial
101 – 101 K -> R. Impaired formation of HMW multimers; when associated with R-77.
Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin.
Waki H.; Yamauchi T.; Kamon J.; Ito Y.; Uchida S.; Kita S.; Hara K.; Hada Y.; Vasseur F.; Froguel P.; Kimura S.; Nagai R.; Kadowaki T.;
J. Biol. Chem. 278:40352-40363(2003)
Cited for: SUBUNIT; DISULFIDE BOND; MUTAGENESIS OF CYS-36; CHARACTERIZATION OF VARIANTS ARG-84; SER-90; CYS-112 AND THR-164;
Genomic structure and mutations in adipose-specific gene, adiponectin.
Takahashi M.; Arita Y.; Yamagata K.; Matsukawa Y.; Okutomi K.; Horie M.; Shimomura I.; Hotta K.; Kuriyama H.; Kihara S.; Nakamura T.; Yamashita S.; Funahashi T.; Matsuzawa Y.;
Int. J. Obes. Relat. Metab. Disord. 24:861-868(2000)
Cited for: VARIANT ADPND CYS-112;
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;
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