Variant position: 555 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 GVYTVFAPTNEAFRALPPRE RSRLLGDAKELANILKYHIGD
Mouse GVYTVFAPTNEAFQAMPPEE LNKLLANAKELTNILKYHIGD
Pig GVYTVFAPTNEAFQALPLGE RNKLLGNAKELANILKYHVGD
Bovine GVYTVFAPTNEAFQALPRGE LNKLMGNAKELANILKYHVGD
Rabbit GAYTVFAPTNEAFQALPPGE LNKLLGNAKELADILKYHVGE
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
552 – 559
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.
Munier F.L.; Korvatska E.; Djemai A.; le Paslier D.; Zografos L.; Pescia G.; Schorderet D.F.;
Nat. Genet. 15:247-251(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555;
Mutation hot spots in 5q31-linked corneal dystrophies.
Korvatska E.; Munier F.L.; Djemai A.; Wang M.X.; Frueh B.; Chiou A.G.-Y.; Uffer S.; Ballestrazzi E.; Braunstein R.E.; Forster R.K.; Culbertson W.W.; Boman H.; Zografos L.; Schorderet D.F.;
Am. J. Hum. Genet. 62:320-324(1998)
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555;
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.
Mashima Y.; Yamamoto S.; Inoue Y.; Yamada M.; Konishi M.; Watanabe H.; Maeda N.; Shimomura Y.; Kinoshita S.;
Am. J. Ophthalmol. 130:516-517(2000)
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; THR-501; ARG-527; GLN-555 AND TRP-555; VARIANT SER-544;
Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.
Dighiero P.; Niel F.; Ellies P.; D'Hermies F.; Savoldelli M.; Renard G.; Delpech M.; Valleix S.;
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; 125-THR-GLU-126 DEL; THR-546; GLN-555; TRP-555 AND ARG-626;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.