Variant position: 450 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:
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 TVTSTPCWIELHLNGPLQWL DKVLTQMGSPSVRCSSMS
Mouse TVTSTPCWIELHLNGPLQWL DKVLTQMGSPSVRCSSMS
Rat TVTSTPCWIELHLNGPLQWL DKVLTQMGSPSVRCSSMS
Bovine TVTSTPCWIELHLNGPLQWL DKVLTQMGSPSVRCSSMS
Zebrafish TVTSTPCWIELHLNGPLQWL DKVLTQMGSPSVRCSSMS
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
2 – 467 Mothers against decapentaplegic homolog 2
274 – 467 MH2
458 – 458 Phosphoserine
460 – 460 Phosphoserine
464 – 464 Phosphoserine
465 – 465 Phosphoserine; by TGFBR1
467 – 467 Phosphoserine; by TGFBR1
464 – 464 S -> A. Loss of phosphorylation by TGFBR1; when associated with A-465 and A-467.
465 – 465 S -> A. No change in binding to PPM1A. Loss of phosphorylation by TGFBR1; when associated with A-464 and A-467.
465 – 465 S -> D. No change in binding to PPM1A.
467 – 467 S -> A. No change in binding to PPM1A. Loss of phosphorylation by TGFBR1; when associated with A-464 and A-465.
467 – 467 S -> D. No change in binding to PPM1A.
443 – 453
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.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); PHOSPHORYLATION BY TGFBR1; VARIANTS CYS-133; ARG-440; HIS-445 AND GLU-450;
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