UniProtKB/Swiss-Prot P20823: Variant p.Ser574Gly

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position:

574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

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:

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:

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:

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:

Links to websites of interest for the variant.

Variant rs1169305 [ dbSNP | Ensembl ]

Sequence information Variant position:

574 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:

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:

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:

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
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.