Variant position: 124 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 SNLYETLGVVGSTTTQLYTD RTEKLRPEMEGPGSFTIFAPS
Mouse SNLYETMGVVGSTTTQLYTD RTEKLRPEMEGPGSFTIFAPS
Pig SNLYETLGVVGSTTTQLYTD RTEKLRPEMEGPGSFTIFAPS
Bovine SNLYETLGVVGATTTQLYTD RTEKLRPEMEGPGSFTIFAPS
Rabbit ANLYETLGVVGSTTTQLYTD RTEKLRPEMEGPGRFTIFAPS
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.
Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy.
Okada M.; Yamamoto S.; Tsujikawa M.; Watanabe H.; Inoue Y.; Maeda N.; Shimomura Y.; Nishida K.; Quantock A.J.; Kinoshita S.; Tano Y.;
Am. J. Ophthalmol. 126:535-542(1998)
Cited for: VARIANT CDRB LEU-124;
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;
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126.
Dighiero P.; Drunat S.; D'Hermies F.; Renard G.; Delpech M.; Valleix S.;
Arch. Ophthalmol. 118:814-818(2000)
Cited for: VARIANTS CORNEAL DYSTROPHIES LEU-124 AND 125-THR-GLU-126 DEL;
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;
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
Chakravarthi S.V.V.K.; Kannabiran C.; Sridhar M.S.; Vemuganti G.K.;
Invest. Ophthalmol. Vis. Sci. 46:121-125(2005)
Cited for: VARIANTS CDL1 CYS-124 AND ARG-626; VARIANT CDRB LEU-124; VARIANT CDGG1 TRP-555; VARIANTS LATTICE CORNEAL DYSTROPHY ASP-539; VAL-594 AND 624-VAL-VAL-625 DEL; VARIANT PHE-269;
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.