Variant position: 500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 552 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 PAISLSAAAGIGVDDLRRLC ILRMSFVKGWGPDYPRQSIKE
Mouse PAISLSAAAGIGVDDLRRLC ILRMSFVKGWGPDYPRQSIKE
Rat PAISLSAAAGIGVDDLRRLC ILRMSFVKGWGPDYPRQSIKE
Pig PAISLSAAAGIGVDDLRRLC ILRMSFVKGWGPDYPRQSIKE
Bovine PAISLSAAAGIGVDDLRRLC ILRMSFVKGWGPDYPRQSIKE
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
1 – 552 Mothers against decapentaplegic homolog 4
323 – 552 MH2
515 – 515 Necessary for heterotrimerization
507 – 507 N6-acetyllysine
519 – 519 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
496 – 496 R -> S. No effect on heterotrimerization. Partially diminished transcriptional activation.
502 – 502 R -> S. No effect on heterotrimerization. Greatly reduced transcriptional activation.
515 – 515 R -> S. Reduced heterotrimerization.
519 – 519 K -> R. Abolishes ubiquitination.
500 – 506
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V.; Cianetti L.; Niceta M.; Carta C.; Ciolfi A.; Bocchinfuso G.; Carrani E.; Dentici M.L.; Biamino E.; Belligni E.; Garavelli L.; Boccone L.; Melis D.; Andria G.; Gelb B.D.; Stella L.; Silengo M.; Dallapiccola B.; Tartaglia M.;
Am. J. Hum. Genet. 90:161-169(2012)
Cited for: VARIANTS MYHRS THR-500 AND VAL-500;
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C.; Mahaut C.; Abhyankar A.; Le Goff W.; Serre V.; Afenjar A.; Destree A.; di Rocco M.; Heron D.; Jacquemont S.; Marlin S.; Simon M.; Tolmie J.; Verloes A.; Casanova J.L.; Munnich A.; Cormier-Daire V.;
Nat. Genet. 44:85-88(2012)
Cited for: VARIANTS MYHRS MET-500; THR-500 AND VAL-500; CHARACTERIZATION OF VARIANT MYHRS THR-500;
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.