Sequence information
Variant position: 1250 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1390 The length of the canonical sequence.
Location on the sequence:
YDKEYYSVHNKTGAKLPVKW
M ALESLQTQKFTTKSDVWSFG
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 YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Gorilla YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Chimpanzee YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Mouse YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Rat YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Pig YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Bovine YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Rabbit YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Sheep YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Cat YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
Horse YDKEYYSVHNKTGAKLPVKWM ALESLQTQKFTTKSDVWSFG
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
25 – 1390
Hepatocyte growth factor receptor
Topological domain
956 – 1390
Cytoplasmic
Domain
1078 – 1345
Protein kinase
Region
1212 – 1390
Interaction with RANBP9
Modified residue
1230 – 1230
Phosphotyrosine
Modified residue
1234 – 1234
Phosphotyrosine; by autocatalysis
Modified residue
1235 – 1235
Phosphotyrosine; by autocatalysis
Alternative sequence
765 – 1390
Missing. In isoform 3.
Mutagenesis
1234 – 1234
Y -> F. Complete loss of kinase activity and of ligand-induced ubiquitination. Alters interaction with PTPN1 and PTPN2. Loss of interaction with PTPN1 and PTPN2; when associated with F-1235.
Mutagenesis
1235 – 1235
Y -> F. Complete loss of kinase activity. Alters interaction with PTPN1 and PTPN2. Loss of interaction with PTPN1 and PTPN2; when associated with F-1234.
Literature citations
Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas.
Park W.S.; Dong S.M.; Kim S.Y.; Na E.Y.; Shin M.S.; Pi J.H.; Kim B.J.; Bae J.H.; Hong Y.K.; Lee K.S.; Lee S.H.; Yoo N.J.; Jang J.J.; Pack S.; Zhuang Z.; Schmidt L.; Zbar B.; Lee J.Y.;
Cancer Res. 59:307-310(1999)
Cited for: VARIANTS HCC ILE-1173; ARG-1244 AND ILE-1250;
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.