Home  |  Contact

UniProtKB/Swiss-Prot Q15582: Variant p.Arg124Leu

Transforming growth factor-beta-induced protein ig-h3
Gene: TGFBI
Chromosomal location: 5q31
Variant information

Variant position:  124
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Leucine (L) at position 124 (R124L, p.Arg124Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. {ECO:0000269|PubMed:10660331, ECO:0000269|PubMed:15623763, ECO:0000269|PubMed:9780098}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CDRB.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   SNLYETLGVVGSTTTQLYTD  R TEKLRPEMEGPGSFTIFAPS
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                         SNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPS

Mouse                         SNLYETMGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPS

Pig                           SNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPS

Bovine                        SNLYETLGVVGATTTQLYTDRTEKLRPEMEGPGSFTIFAPS

Rabbit                        ANLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGRFTIFAPS

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.

TypePositionsDescription
Chain 24 – 683 Transforming growth factor-beta-induced protein ig-h3
Domain 103 – 236 FAS1 1
Disulfide bond 74 – 339
Helix 116 – 124


Literature citations

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.;
Ophthalmology 108:818-823(2001)
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;

Disclaimer: 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.