Sequence information
Variant position: 521 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 567 The length of the canonical sequence.
Location on the sequence:
PSFWLNHQGIQMVCETLTEC
W DHDPEARLTAQCVAERFSEL
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 PSFWLNHQGIQMVCETLTECW DHDPEARLTAQCVAERFSEL
Mouse PSFWLNHQGIQIVCETLTECW DHDPEARLTAQCVAERFSEL
Rat PSFWLNHQGIQIVCETLTECW DHDPEARLTAQCVAERFSEL
Chicken PSSWLNHQGIQMVCETLIECW DHDPEARLTAQCVAERFSEF
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
23 – 567
TGF-beta receptor type-2
Topological domain
188 – 567
Cytoplasmic
Domain
244 – 544
Protein kinase
Region
439 – 567
Sufficient for interaction with CLU
Alternative sequence
81 – 567
Missing. In isoform 3.
Literature citations
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
Kirmani S.; Tebben P.J.; Lteif A.N.; Gordon D.; Clarke B.L.; Hefferan T.E.; Yaszemski M.J.; McGrann P.S.; Lindor N.M.; Ellison J.W.;
Am. J. Med. Genet. A 152:1016-1019(2010)
Cited for: VARIANTS LDS2 PRO-308 AND ARG-521;
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.