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:
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 GLHTPASQATTLHVPSQDPA GIQHLQPAHRLSASPTVSSSS
Mouse GLHEPPSPATTIHIPSQDPS NIQHLQPAHRLSTSPTVSSSS
Rat GLHEPSSPATTIHIPSQDPS NIQHLQPAHRLSTSPTVSSSS
Chicken GIHTPVSQAPAIHLQNQDTA -IQHLQSGPRLTPSPAVSSSS
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.
New isoforms in HNF1A.
Gonzalez Ruano E.; Gonzalez Sarmiento R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7); VARIANT SER-574;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574;
An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young).
Boutin P.; Chevre J.-C.; Hani E.H.; Gomis R.; Pardini V.C.; Guillausseau P.-J.; Vaxillaire M.; Velho G.; Froguel P.;
Cited for: VARIANTS MODY3; VARIANT ATYPICAL DIABETES SER-574;
Bi-allelic inactivation of TCF1 in hepatic adenomas.
Bluteau O.; Jeannot E.; Bioulac-Sage P.; Marques J.M.; Blanc J.-F.; Bui H.; Beaudoin J.-C.; Franco D.; Balabaud C.; Laurent-Puig P.; Zucman-Rossi J.;
Nat. Genet. 32:312-315(2002)
Cited for: INVOLVEMENT IN HEPATIC ADENOMAS; VARIANTS TYR-127; CYS-165; CYS-206; LEU-206; SER-237; GLY-244; PRO-250; CYS-268; GLU-273; SER-574 AND GLN-583;
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.