Variant position: 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 683 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 ALPPRERSRLLGDAKELANI LKYHIGDEILVSGGIGALVRL
Mouse AMPPEELNKLLANAKELTNI LKYHIGDEILVSGGIGALVRL
Pig ALPLGERNKLLGNAKELANI LKYHVGDEILVSGGIGALVRL
Rabbit ALPPGELNKLLGNAKELADI LKYHVGEEILVSGGIGTLVRL
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
24 – 683 Transforming growth factor-beta-induced protein ig-h3
502 – 632 FAS1 4
554 – 554 4-carboxyglutamate
564 – 564 4-carboxyglutamate
576 – 576 4-carboxyglutamate
562 – 571
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
Warren J.F.; Abbott R.L.; Yoon M.K.; Crawford J.B.; Spencer W.H.; Margolis T.P.;
Am. J. Ophthalmol. 136:872-878(2003)
Cited for: VARIANT CDL1 ARG-569;
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