Variant position: 218 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 FDVTGVVRQWLSRGGEIEGF RLSAHCSCDSRDNTLQVDING
Mouse FDVTGVVRQWLNQGDGIQGF RFSAHCSCDSKDNKLHVEING
Rat FDVTGVVRQWLNQGDGIQGF RFSAHCSCDSKDNVLHVEING
Pig FDVTGVVRQWLTRREAIEGF RLSAHCSCDSKDNTLHVEING
Bovine FDVTGVVRQWLTRREEIEGF RLSAHCSCDSKDNTLQVDING
Sheep FDVTGVVRQWLTHREEIEGF RLSAHCSCDSKDNTLQVDING
Horse FDVTGVVRQWLSQGGAMEGF RLSAHCSCDSKDNTLRVGING
Xenopus laevis FDVTKTVNEWLKRAEENEQF GLQPACKCPTPQAK-DIDIEG
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.
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A.; Saito T.; Tomita H.; Makita Y.; Yoshida K.; Ghadami M.; Yamada K.; Kondo S.; Ikegawa S.; Nishimura G.; Fukushima Y.; Nakagomi T.; Saito H.; Sugimoto T.; Kamegaya M.; Hisa K.; Murray J.C.; Taniguchi N.; Niikawa N.; Yoshiura K.;
Nat. Genet. 26:19-20(2000)
Cited for: VARIANTS CAEND CYS-218; HIS-218 AND ARG-225;
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