Variant position: 264 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 LLGNDYIVPRHCPELAEMSR VSIRILDELVLPFQELQIDDN
Mouse LLGNDYIVPRHCPELAEMSR VSIRILDELVLPFQELQIDDN
Rat LLGNDYIVPRHCPELAEMSR VSIRILDELVLPFQELQIDDN
Xenopus laevis LLGNDRLIPRNCPEL-EVGR VAVRILDELVLPFQELQIDDN
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.
Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM.
Moeller A.M.; Urhammer S.A.; Dalgaard L.T.; Reneland R.; Berglund L.; Hansen T.; Clausen J.O.; Lithell H.; Pedersen O.;
Cited for: VARIANTS ILE-139 AND MET-264;
Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).
Navas M.A.; Munoz-Elias E.J.; Kim J.; Shih D.; Stoffel M.;
Cited for: CHARACTERIZATION OF VARIANT MET-264; CHARACTERIZATION OF VARIANT MODY1 GLN-285;
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.