Variant position: 223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 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 VVRQWLSRGGEIEGFRLSAH CSCDSRDNTLQVDINGFTTGR
Mouse VVRQWLNQGDGIQGFRFSAH CSCDSKDNKLHVEINGISPKR
Rat VVRQWLNQGDGIQGFRFSAH CSCDSKDNVLHVEINGISPKR
Pig VVRQWLTRREAIEGFRLSAH CSCDSKDNTLHVEINGFNSGR
Bovine VVRQWLTRREEIEGFRLSAH CSCDSKDNTLQVDINGFSSGR
Sheep VVRQWLTHREEIEGFRLSAH CSCDSKDNTLQVDINGFSSGR
Dog VVRQWLSHGGEVEGFRLSAH CSCDSKDNTLQVDINGFSSSR
Horse VVRQWLSQGGAMEGFRLSAH CSCDSKDNTLRVGINGFSSSR
Xenopus laevis TVNEWLKRAEENEQFGLQPA CKCPTPQAK-DIDIEGF-PAL
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
30 – 278 Latency-associated peptide
75 – 271 Arm domain
223 – 223 Interchain (with C-225)
225 – 225 Interchain (with C-223)
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
Kinoshita A.; Fukumaki Y.; Shirahama S.; Miyahara A.; Nishimura G.; Haga N.; Namba A.; Ueda H.; Hayashi H.; Ikegawa S.; Seidel J.; Niikawa N.; Yoshiura K.;
Am. J. Med. Genet. 127A:104-107(2004)
Cited for: VARIANTS CE GLY-223 AND ARG-223;
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