Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Ser574Gly

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Feedback?
Variant information Variant position: help 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Serine (S) to Glycine (G) at position 574 (S574G, p.Ser574Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism: help The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 631 The length of the canonical sequence.
Location on the sequence: help GLHTPASQATTLHVPSQDPA S IQHLQPAHRLSASPTVSSSS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSS

Mouse                         GLHEPPSPATTIHIPSQDPSNIQHLQPAHRLSTSPTVSSSS

Rat                           GLHEPSSPATTIHIPSQDPSNIQHLQPAHRLSTSPTVSSSS

Chicken                       GIHTPVSQAPAIHLQNQD-TAIQHLQSGPRLTPSPAVSSSS

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
Alternative sequence 120 – 631 Missing. In isoform 8.
Alternative sequence 248 – 631 Missing. In isoform 5.
Alternative sequence 279 – 631 Missing. In isoform 4.
Alternative sequence 495 – 601 Missing. In isoform C.
Alternative sequence 521 – 631 Missing. In isoform 6.
Alternative sequence 543 – 601 Missing. In isoform B.



Literature citations
Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse.
Bach I.; Galcheva-Gargova Z.; Mattei M.-G.; Simon-Chazottes D.; Guenet J.-L.; Cereghini S.; Yaniv M.;
Genomics 8:155-164(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); VARIANT GLY-574; Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3).
Yamagata K.; Oda N.; Kaisaki P.J.; Menzel S.; Furuta H.; Vaxillaire M.; Southam L.; Cox R.D.; Lathrop G.M.; Boriraj V.V.; Chen X.; Cox N.J.; Oda Y.; Yano H.; le Beau M.M.; Yamada S.; Nishigori H.; Takeda J.; Fajans S.S.; Hattersley A.T.; Iwasaki N.; Hansen T.; Pedersen O.; Polonsky K.S.; Turner R.C.; Velho G.; Chevre J.-C.; Froguel P.; Bell G.I.;
Nature 384:455-458(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MODY3 LEU-447; VARIANT GLY-574; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-27; VAL-98; ASN-487 AND GLY-574; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLY-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]; VARIANTS LEU-27 AND GLY-574;
Disclaimer: 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.