Variant position: 583 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 631 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 TTLHVPSQDPAGIQHLQPAH RLSASPTVSSSSLVLYQSSDS
Mouse TTIHIPSQDPSNIQHLQPAH RLSTSPTVSSSSLVLYQSSDS
Rat TTIHIPSQDPSNIQHLQPAH RLSTSPTVSSSSLVLYQSSDS
Chicken PAIHLQNQDTA-IQHLQSGP RLTPSPAVSSSSLVLYQSSDS
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
1 – 631 Hepatocyte nuclear factor 1-alpha
120 – 631 Missing. In isoform 8.
248 – 631 Missing. In isoform 5.
279 – 631 Missing. In isoform 4.
495 – 601 Missing. In isoform C.
521 – 631 Missing. In isoform 6.
543 – 601 Missing. In isoform B.
Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.
Yamada S.; Nishigori H.; Onda H.; Utsugi T.; Yanagawa T.; Maruyama T.; Onigata K.; Nagashima K.; Nagai R.; Morikawa A.; Takeuchi T.; Takeda J.;
Cited for: VARIANTS IDDM20 HIS-272 AND GLY-583;
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