Variant position: 136 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 RLKKCFRAGMKKEAVQNERD RISTRRSSYEDSSLPSINALL
Mouse RLKKCFRAGMKKEAVQNERD RISTRRSSYEDSSLPSINALL
Rat RLKKCFRAGMKKEAVQNERD RISTRRSSYEDSSLPSINALL
Xenopus laevis RLKKCFRAGMKKEAVQNERD RISTRRSSYEDSSLPSINVLI
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
142 – 142 Phosphoserine
143 – 143 Phosphoserine
144 – 144 Phosphotyrosine
Organization and partial sequence of the hepatocyte nuclear factor-4-alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.
Furuta H.; Iwasaki N.; Oda N.; Hinokio Y.; Horikawa Y.; Yamagata K.; Yano N.; Sugahiro J.; Ogata M.; Ohgawara H.; Omori Y.; Iwamoto Y.; Bell G.I.;
Cited for: VARIANT MODY1 TRP-136;
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