Variant position: 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 474 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 DRATGKHYGASSCDGCKGFF RRSVRKNHMYSCRFSRQCVVD
Mouse DRATGKHYGASSCDGCKGFF RRSVRKNHMYSCRFSRQCVVD
Rat DRATGKHYGASSCDGCKGFF RRSVRKNHMYSCRFSRQCVVD
Xenopus laevis DRATGKHYGASSCDGCKGFF RRSVRKNHMYSCRFSRQCVVD
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 – 474 Hepatocyte nuclear factor 4-alpha
57 – 132 Nuclear receptor
78 – 89
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
Stanescu D.E.; Hughes N.; Kaplan B.; Stanley C.A.; De Leon D.D.;
J. Clin. Endocrinol. Metab. 97:E2026-2030(2012)
Cited for: INVOLVEMENT IN FRTS4; VARIANT FRTS4 TRP-85;
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.
Hamilton A.J.; Bingham C.; McDonald T.J.; Cook P.R.; Caswell R.C.; Weedon M.N.; Oram R.A.; Shields B.M.; Shepherd M.; Inward C.D.; Hamilton-Shield J.P.; Kohlhase J.; Ellard S.; Hattersley A.T.;
J. Med. Genet. 51:165-169(2014)
Cited for: VARIANT FRTS4 TRP-85;
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.