Sequence information
Variant position: 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 156 The length of the canonical sequence.
Location on the sequence:
RDVARYLRAAAGGTRGSNHA
R IDAAEGPSDIPD
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 RDVARYLR-------------AAAGGTRG--------SNHAR IDAAEGPSDIPD
Mouse QDIVRYLRSAGCSLCSAGWSLCTAGNVAQ-TDG
Rat HDVVRYLR----------YLLSSAGNVSRVTDR
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 – 156
Cyclin-dependent kinase inhibitor 2A
Modified residue
140 – 140
Phosphoserine
Modified residue
152 – 152
Phosphoserine
Alternative sequence
117 – 156
Missing. In isoform 3.
Literature citations
The MTS1 gene is frequently mutated in primary human esophageal tumors.
Zhou X.; Tarmin L.; Yin J.; Jiang H.-Y.; Suzuki H.; Rhyu M.-G.; Abraham J.M.; Meltzer S.J.;
Oncogene 9:3737-3741(1994)
Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-127 AND CYS-144;
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.