Variant position: 1177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1821 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 SYQCLCPQGFQLANGTVCED VNECMGEEHCAPHGECLNSHG
Mouse SYQCLCHQGFQLVNGTMCED VNECVGEEHCAPHGECLNSLG
Rat SYQCLCPQGFQLANGTVCED VDECVGEEHCAPHGECLNSPG
Bovine SYQCLCPPGFQLANGTVCED VDECVGEEYCAPRGECLNSHG
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
36 – 1821 Latent-transforming growth factor beta-binding protein 2
1176 – 1217 EGF-like 12; calcium-binding
856 – 1372 Cys-rich
1170 – 1170 N-linked (GlcNAc...) asparagine
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
Haji-Seyed-Javadi R.; Jelodari-Mamaghani S.; Paylakhi S.H.; Yazdani S.; Nilforushan N.; Fan J.B.; Klotzle B.; Mahmoudi M.J.; Ebrahimian M.J.; Chelich N.; Taghiabadi E.; Kamyab K.; Boileau C.; Paisan-Ruiz C.; Ronaghi M.; Elahi E.;
Hum. Mutat. 33:1182-1187(2012)
Cited for: VARIANT WMS3 MET-1177;
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