Variant position: 27 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 QLQTELLAALLESGLSKEAL IQALGEPGPYLLAGEGP-------LDKG
Mouse QLQTELLAALLESGLSKEAL IQALGEPGPYLMVGEGP----
Rat QLQTELLAALLESGLSKEAL IQALGEPGPYLMVGDGP----
Chicken HLQVELLGALLESGLTKETL IKGLSEAEPYVLQSESQHAIN
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
1 – 32 HNF-p1
1 – 31 Dimerization
1 – 117 Missing. In isoform 6.
23 – 30
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-27;
Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects.
Yamada S.; Nishigori H.; Onda H.; Takahashi K.; Kitano N.; Morikawa A.; Takeuchi T.; Takeda J.;
Cited for: VARIANT NIDDM MET-254; VARIANTS LEU-27 AND ASN-487;
A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge.
Urhammer S.A.; Fridberg M.; Hansen T.; Rasmussen S.K.; Moeller A.M.; Clausen J.O.; Pedersen O.;
Cited for: VARIANTS LEU-27; VAL-98 AND ASN-487;
Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.
Urhammer S.A.; Rasmussen S.K.; Kaisaki P.J.; Oda N.; Yamagata K.; Moeller A.M.; Fridberg M.; Hansen L.; Hansen T.; Bell G.I.; Pedersen O.;
Cited for: VARIANT NIDDM GLN-583; VARIANTS LEU-27; VAL-98 AND ASN-487;
Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews.
Behn P.S.; Wasson J.; Chayen S.; Smolovitch I.; Thomas J.D.; Glaser B.; Permutt M.A.;
Cited for: VARIANTS LEU-27; ASN-487 AND ARG-514;
Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese.
Nishigori H.; Yamada S.; Kohama T.; Utsugi T.; Shimizu H.; Takeuchi T.; Takeda J.;
J. Hum. Genet. 43:107-110(1998)
Cited for: VARIANTS LEU-27 AND ASN-487;
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.