Variant position: 546 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 GLTETLNREGVYTVFAPTNE AFRALPPRERSRLLGDAKELA
Mouse GLMEILNREGVYTVFAPTNE AFQAMPPEELNKLLANAKELT
Pig GLTETLNREGVYTVFAPTNE AFQALPLGERNKLLGNAKELA
Rabbit RLTETLNREGAYTVFAPTNE AFQALPPGELNKLLGNAKELA
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
529 – 529 4-carboxyglutamate
534 – 534 4-carboxyglutamate
545 – 545 4-carboxyglutamate
554 – 554 4-carboxyglutamate
564 – 564 4-carboxyglutamate
544 – 549
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
Aldave A.J.; Gutmark J.G.; Yellore V.S.; Affeldt J.A.; Meallet M.A.; Udar N.; Rao N.A.; Small K.W.; Klintworth G.K.;
Am. J. Ophthalmol. 138:772-781(2004)
Cited for: VARIANTS CDL1 ASP-546 AND GLN-551;
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