Variant position: 484 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 496 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 VRISFAKGWGPCYSRQFITS CPCWLEILLNNPR
Mouse VRISFAKGWGPCYSRQFITS CPCWLEILLNNHR
Chicken VRISFAKGWGPCYSRQFITS CPCWLEILLSNNR
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 – 496 Mothers against decapentaplegic homolog 6
331 – 496 MH2
339 – 496 Missing. In isoform D.
471 – 471 G -> S. Loss of SMAD1-binding and of inhibition of BMP-SMAD1 signaling. No effect on interaction with BMPR1B and TGFBR1.
478 – 496 Missing. Loss of interaction with BMPR1B, TGFBR1 and SMAD1.
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
Tan H.L.; Glen E.; Topf A.; Hall D.; O'Sullivan J.J.; Sneddon L.; Wren C.; Avery P.; Lewis R.J.; ten Dijke P.; Arthur H.M.; Goodship J.A.; Keavney B.D.;
Hum. Mutat. 33:720-727(2012)
Cited for: INVOLVEMENT IN CONGENITAL CARDIOVASCULAR MALFORMATIONS; VARIANT THR-325; VARIANTS AOVD2 LEU-415 AND PHE-484; CHARACTERIZATION OF VARIANTS AOVD2 LEU-415 AND PHE-484;
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.