Variant position: 81 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 SPPSQGEVPPGPLPEAVLAL YNST----RDRVAGESAEPEPEPE-A
Mouse SPPSQGEVPPGPLPEAVLAL YNST----RDRVAGESADPEP
Rat SPPSQGEVPPGPLPEAVLAL YNST----RDRVAGESADPEP
Pig SPPSQGDVPPGPLPEAVLAL YNST----RDRVAGESVEPEP
Bovine SPPSQGDVPPGPLPEAILAL YNST----RDRVAGESAETEP
Sheep SPPSQGDVPPGPLPEAILAL YNST----RDRVAGESAETEP
Horse SPPSQGEVPPGPLPEAVLAL YNST----RAQVAGESAETEP
Xenopus laevis KTPDV-DSEKMTVPSEAIFL YNSTLEVIREKATREEEHVGH
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
82 – 82 N-linked (GlcNAc...) asparagine
75 – 85
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
Janssens K.; Gershoni-Baruch R.; Guanabens N.; Migone N.; Ralston S.; Bonduelle M.; Lissens W.; Van Maldergem L.; Vanhoenacker F.; Verbruggen L.; Van Hul W.;
Nat. Genet. 26:273-275(2000)
Cited for: VARIANTS CAEND HIS-81; CYS-218 AND ARG-225;
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 CAEND 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.