Sequence information
Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 521 The length of the canonical sequence.
Location on the sequence:
SLQPGKMSDVSPVVAAQQQQ
Q QQQQQQQQQQQQQQQQQQEA
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 SLQPGKMSDVSPVVAAQQQQQ QQQQQQQQQQQQQQQQQQE-------A
Mouse SLQPGKMSDVSPVVAAQQQQQ QQQQQQQQQQQQQQQQQQQQ
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 – 521
Runt-related transcription factor 2
Region
18 – 59
Disordered
Literature citations
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
Machuca-Tzili L.; Monroy-Jaramillo N.; Gonzalez-del Angel A.; Kofman-Alfaro S.;
Clin. Genet. 61:349-353(2002)
Cited for: VARIANT CLCD1 LEU-53;
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.