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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02489: Variant p.Arg21Trp

Alpha-crystallin A chain
Gene: CRYAA
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Variant information Variant position: help 21 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 Arginine (R) to Tryptophan (W) at position 21 (R21W, p.Arg21Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CTRCT9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 21 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 173 The length of the canonical sequence.
Location on the sequence: help MDVTIQHPWFKRTLGPFYPS R LFDQFFGEGLFEYDLLPFLS 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                         MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLS

                              MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Rhesus macaque                MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLS

Mouse                         MDVTIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Rat                           MDVTIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Pig                           MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Bovine                        MDIAIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLS

Rabbit                        MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLS

Sheep                         MDIAIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLS

Cat                           MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Horse                         MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLS

Chicken                       MDITIQHPWFKRALGPLIPSRLFDQFFGEGLLEYDLLPLFS
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 1 – 173 Alpha-crystallin A chain
Chain 1 – 172 Alpha-crystallin A(1-172)
Chain 1 – 168 Alpha-crystallin A(1-168)
Chain 1 – 162 Alpha-crystallin A(1-162)
Region 1 – 63 Required for complex formation with BFSP1 and BFSP2; during homooligomerization, mediates the association of 2 dimers to form a tetramer
Site 1 – 1 Susceptible to oxidation
Site 18 – 18 Susceptible to oxidation
Site 34 – 34 Susceptible to oxidation
Modified residue 1 – 1 N-acetylmethionine
Modified residue 6 – 6 Deamidated glutamine; partial



Literature citations
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L.; Yao W.; Eiberg H.; Kjaer K.W.; Baggesen K.; Hejtmancik J.F.; Rosenberg T.;
Invest. Ophthalmol. Vis. Sci. 48:3937-3944(2007)
Cited for: VARIANTS CTRCT9 CYS-12 AND TRP-21; Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi R.R.; Yao W.; Vijayalakshmi P.; Sergeev Y.V.; Sundaresan P.; Hejtmancik J.F.;
Mol. Vis. 14:1157-1170(2008)
Cited for: VARIANTS CTRCT9 CYS-12; TRP-21 AND CYS-54; Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L.; Mikkelsen A.; Nuernberg P.; Nuernberg G.; Anjum I.; Eiberg H.; Rosenberg T.;
Invest. Ophthalmol. Vis. Sci. 50:3291-3303(2009)
Cited for: VARIANTS CTRCT9 TRP-21 AND CYS-49; Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
Kondo Y.; Saitsu H.; Miyamoto T.; Lee B.J.; Nishiyama K.; Nakashima M.; Tsurusaki Y.; Doi H.; Miyake N.; Kim J.H.; Yu Y.S.; Matsumoto N.;
Mol. Vis. 19:384-389(2013)
Cited for: VARIANT CTRCT9 TRP-21; Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Sun Z.; Zhou Q.; Li H.; Yang L.; Wu S.; Sui R.;
Mol. Vis. 23:977-986(2017)
Cited for: VARIANT CTRCT9 TRP-21; Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J.; Leng Y.; Han S.; Yan L.; Lu C.; Luo Y.; Zhang X.; Cao L.;
Orphanet J. Rare Dis. 13:94-94(2018)
Cited for: VARIANT CTRCT9 TRP-21; Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J.; Cao Z.; Zhu Y.; Liu L.; Tong Y.; Chen X.; Wang Y.; Lu C.; Ma X.; Yang J.;
Mol. Vis. 25:427-437(2019)
Cited for: VARIANTS CTRCT9 LEU-12; TRP-21 AND CYS-116;
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.