Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02489: Variant p.Arg12Cys

Alpha-crystallin A chain
Gene: CRYAA
Feedback?
Variant information Variant position: help 12 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 Cysteine (C) at position 12 (R12C, p.Arg12Cys). 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 medium size and polar (C) 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; delays HSP70 expression increase in response to heat shock. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 12 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 MDVTIQHPWFK R TLGPFYPSRLFDQFFGEGLF 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                         MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLF

                              MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLF

Rhesus macaque                MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLF

Mouse                         MDVTIQHPWFKRALGPFYPSRLFDQFFGEGLF

Rat                           MDVTIQHPWFKRALGPFYPSRLFDQFFGEGLF

Pig                           MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLF

Bovine                        MDIAIQHPWFKRTLGPFYPSRLFDQFFGEGLF

Rabbit                        MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLF

Sheep                         MDIAIQHPWFKRTLGPFYPSRLFDQFFGEGLF

Cat                           MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLF

Horse                         MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLF

Chicken                       MDITIQHPWFKRALGPLIPSRLFDQFFGEGLL
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
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; Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
Santana A.; Waiswol M.; Arcieri E.S.; Cabral de Vasconcellos J.P.; Barbosa de Melo M.;
Mol. Vis. 15:793-800(2009)
Cited for: VARIANT CTRCT9 CYS-12; An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
Zhang L.Y.; Yam G.H.; Tam P.O.; Lai R.Y.; Lam D.S.; Pang C.P.; Fan D.S.;
Mol. Vis. 15:1127-1138(2009)
Cited for: CHARACTERIZATION OF VARIANT CTRCT9 CYS-12; SUBCELLULAR LOCATION; Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
Sun W.; Xiao X.; Li S.; Guo X.; Zhang Q.;
Mol. Vis. 17:1508-1513(2011)
Cited for: VARIANT CTRCT9 CYS-12; Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis L.M.; Tyler R.C.; Muheisen S.; Raggio V.; Salviati L.; Han D.P.; Costakos D.; Yonath H.; Hall S.; Power P.; Semina E.V.;
Hum. Genet. 132:761-770(2013)
Cited for: VARIANT CTRCT9 CYS-12; Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q.; Zhu S.;
Biosci. Rep. 40:0-0(2020)
Cited for: VARIANT CTRCT9 CYS-12;
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.