Variant position: 21 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 728 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 MEAAAGGRGCFQPHPGLQKT LEQFHLSSMSSLGGPAAFSAR
Mouse MEAAAAGRGGFQ-QPGLQKT LEQFHLSSMSSLGGPAV-SRR
Horse MEAAAGGRGGFQPHPGLQKT LEQFHLSSMSSLGGPAAFSAR
Chicken METVS--RSSFQPHPGLQKT LEQFHLSSMSSLGGPAAFSAR
Xenopus laevis METVS--RSSFQPHAGLQKT LEQFHLSSMSSLGGPAAFSAR
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.
Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle A.J.; Doyle J.J.; Bessling S.L.; Maragh S.; Lindsay M.E.; Schepers D.; Gillis E.; Mortier G.; Homfray T.; Sauls K.; Norris R.A.; Huso N.D.; Leahy D.; Mohr D.W.; Caulfield M.J.; Scott A.F.; Destree A.; Hennekam R.C.; Arn P.H.; Curry C.J.; Van Laer L.; McCallion A.S.; Loeys B.L.; Dietz H.C.;
Nat. Genet. 44:1249-1254(2012)
Cited for: VARIANTS SGS ARG-21; VAL-32; ASP-34; CYS-34; SER-34; SER-35; 95-ASP--SER-97 DEL; GLU-116 AND ARG-117;
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