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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Pro447Leu

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position: help 447
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 447 (P447L, p.Pro447Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MODY3.


Sequence information Variant position: help 447
Protein sequence length: help 631
Location on the sequence: help TNTGASTLVIGLASTQAQSV P VINSMGSSLTTLQPVQFSQP
Residue conservation: help 
Human                         TNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQP

Mouse                         TNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQP

Rat                           TNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQP

Chicken                       TNTGGSTLVIGLTSTQPQSVPVINSMGSSLTTLQPVQFSQQ
Sequence annotation in neighborhood: help
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 438 – 520 LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQ -> KLVGMGGHLGGRLMGQPQNPGAGRATGTHSFIHTTCIYPVPTLDQSLCYISDTWVNQTDQNLSNSSREAGTKHNTSILWYLRR. In isoform 6.
Alternative sequence 438 – 494 LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMA -> KLVGMGGHLGGRLMGQPQNPGAGRATGTHSFIHSFIQHVFIQCLLWTSHCATSVIPG. In isoform C.



Literature citations
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; Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Hansen T.; Eiberg H.; Rouard M.; Vaxillaire M.; Moeller A.M.; Rasmussen S.K.; Fridberg M.; Urhammer S.A.; Holst J.J.; Almind K.; Echwald S.M.; Hansen L.; Bell G.I.; Pedersen O.;
Diabetes 46:726-730(1997)
Cited for: VARIANTS MODY3 ASN-128; TYR-143 AND LEU-447; Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I.; Rica I.; Perez de Nanclares G.; Bilbao J.R.; Vazquez J.A.; San Pedro J.I.; Busturia M.A.; Castano L.;
Clin. Endocrinol. (Oxf.) 67:538-546(2007)
Cited for: VARIANTS MODY3 ASP-31; MET-133; 171-ARG--GLN-631 DEL; GLY-271 AND LEU-447;
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.