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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15582: Variant p.His626Arg

Transforming growth factor-beta-induced protein ig-h3
Gene: TGFBI
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Variant information Variant position: help 626 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Histidine (H) to Arginine (R) at position 626 (H626R, p.His626Arg). 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: help Change from medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In CDL1; delayed age of onset. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 626 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 683 The length of the canonical sequence.
Location on the sequence: help VSVNKEPVAEPDIMATNGVV H VITNVLQPPANRPQERGDEL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDEL

Mouse                         VSVNKEPVAETDIMATNGVVYAINTVLQPPANRPQERGDEL

Pig                           VTVNKEPVAEADIMATNGVVHTINTVLRPPANKPQERGDEL

Bovine                        VSVNKEPVAEVDIMATNGVVHAISSVLQPPANRPQERGDEL

Rabbit                        VSVNKEPVAESDIMATNGVVYAITSVLQPPANRPQERGDEL
Sequence annotation in neighborhood: help 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 502 – 632 FAS1 4
Beta strand 623 – 630



Literature citations
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
Stewart H.S.; Black G.C.; Donnai D.; Bonshek R.E.; McCarthy J.; Morgan S.; Dixon M.J.; Ridgway A.A.;
Ophthalmology 106:964-970(1999)
Cited for: VARIANTS CDL HIS-622 AND ARG-626; 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; BIGH3 mutation spectrum in corneal dystrophies.
Munier F.L.; Frueh B.E.; Othenin-Girard P.; Uffer S.; Cousin P.; Wang M.X.; Heon E.; Black G.C.M.; Blasi M.A.; Balestrazzi E.; Lorenz B.; Escoto R.; Barraquer R.; Hoeltzenbein M.; Gloor B.; Fossarello M.; Singh A.D.; Arsenijevic Y.; Zografos L.; Schorderet D.F.;
Invest. Ophthalmol. Vis. Sci. 43:949-954(2002)
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; SER-124; ARG-518; ARG-538; PHE-540 DEL; TRP-555; LYS-622; ASP-623; ARG-626 AND PRO-626; VARIANT ASP-631; 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.