Variant position: 222 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 GVVRQWLSRGGEIEGFRLSA HCSCDSRDNTLQVDINGFTTG
Mouse GVVRQWLNQGDGIQGFRFSA HCSCDSKDNKLHVEINGISPK
Rat GVVRQWLNQGDGIQGFRFSA HCSCDSKDNVLHVEINGISPK
Pig GVVRQWLTRREAIEGFRLSA HCSCDSKDNTLHVEINGFNSG
Bovine GVVRQWLTRREEIEGFRLSA HCSCDSKDNTLQVDINGFSSG
Sheep GVVRQWLTHREEIEGFRLSA HCSCDSKDNTLQVDINGFSSG
Dog GVVRQWLSHGGEVEGFRLSA HCSCDSKDNTLQVDINGFSSS
Horse GVVRQWLSQGGAMEGFRLSA HCSCDSKDNTLRVGINGFSSS
Xenopus laevis KTVNEWLKRAEENEQFGLQP ACKCPTPQAK-DIDIEGF-PA
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)
Transforming growth factor-beta-1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.
Janssens K.; ten Dijke P.; Ralston S.H.; Bergmann C.; Van Hul W.;
J. Biol. Chem. 278:7718-7724(2003)
Cited for: CHARACTERIZATION OF VARIANTS CE HIS-81; CYS-218; ASP-222 AND ARG-225;
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.