Sequence information
Variant position: 440 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 467 The length of the canonical sequence.
Location on the sequence:
KGWGAEYRRQTVTSTPCWIE
L HLNGPLQWLDKVLTQMGSPS
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 KGWGAEYRRQTVTSTPCWIEL HLNGPLQWLDKVLTQMGSPS
Mouse KGWGAEYRRQTVTSTPCWIEL HLNGPLQWLDKVLTQMGSPS
Rat KGWGAEYRRQTVTSTPCWIEL HLNGPLQWLDKVLTQMGSPS
Bovine KGWGAEYRRQTVTSTPCWIEL HLNGPLQWLDKVLTQMGSPS
Zebrafish KGWGAEYRRQTVTSTPCWIEL HLNGPLQWLDKVLTQMGSPS
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.
Literature citations
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
Eppert K.; Scherer S.W.; Ozcelik H.; Pirone R.; Hoodless P.; Kim H.; Tsui L.-C.; Bapat B.; Gallinger S.; Andrulis I.L.; Thomsen G.H.; Wrana J.L.; Attisano L.;
Cell 86:543-552(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); PHOSPHORYLATION BY TGFBR1; VARIANTS CYS-133; ARG-440; HIS-445 AND GLU-450;
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.