Sequence information
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:
RLKKCFRAGMKKEAVQNERD
R ISTRRSSYEDSSLPSINALL
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 RLKKCFRAGMKKEAVQNERDR ISTRRSSYEDSSLPSINALL
Mouse RLKKCFRAGMKKEAVQNERDR ISTRRSSYEDSSLPSINALL
Rat RLKKCFRAGMKKEAVQNERDR ISTRRSSYEDSSLPSINALL
Xenopus laevis RLKKCFRAGMKKEAVQNERDR ISTRRSSYEDSSLPSINVLI
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
Chain
1 – 474
Hepatocyte nuclear factor 4-alpha
Modified residue
142 – 142
Phosphoserine
Modified residue
143 – 143
Phosphoserine
Modified residue
144 – 144
Phosphotyrosine
Literature citations
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.;
Diabetes 46:1652-1657(1997)
Cited for: VARIANT MODY1 TRP-136;
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.