Sequence information
Variant position: 510 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:
NVLRDRGRPEIPSFWLNHQG
I QMVCETLTECWDHDPEARLT
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 NVLRDRGRPEIPSFWLNHQGI QMVCETLTECWDHDPEARLT
Mouse SVLRDRGRPEIPSFWLNHQGI QIVCETLTECWDHDPEARLT
Rat NVLRDRGRPEIPSFWLNHQGI QIVCETLTECWDHDPEARLT
Chicken NVLRDRGRPEIPSSWLNHQGI QMVCETLIECWDHDPEARLT
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
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
Ha J.S.; Kim Y.H.;
Korean J. Pediatr. 54:272-275(2011)
Cited for: VARIANTS LDS2 VAL-509 AND PHE-510;
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.