UniProtKB/Swiss-Prot P02489: Variant p.Arg54Cys

Alpha-crystallin A chain
Gene: CRYAA
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Variant information Variant position:

54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Arginine (R) to Cysteine (C) at position 54 (R54C, p.Arg54Cys). 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 polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In CTRCT9; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs397515623 [ dbSNP | Ensembl ]

Sequence information Variant position:

54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

173 The length of the canonical sequence.
Location on the sequence:

YDLLPFLSSTISPYYRQSLF R TVLDSGISEVRSDRDKFVIF 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                         YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------------------VRSDRDKFVIF

                              YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Rhesus macaque                YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Mouse                         YDLLPFLSSTISPYYRQSLFRTVLDSGISELMTHMWFVMHQ

Rat                           YDLLPFLSSTISPYYRQSLFRTVLDSGISELMTHMWFVMHQ

Pig                           YDLLPFLSSTISPYYRQSLFRTVLDSGVSE-----------

Bovine                        YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Rabbit                        YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Sheep                         YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Cat                           YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Horse                         YDLLPFLSSTISPYYRQSLFRTVLDSGISE-----------

Chicken                       YDLLPLFSSTISPYYRQSLFRSVLESGISE-----------

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.

Type	Positions	Description
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)
Domain	52 – 164	sHSP
Region	1 – 63	Required for complex formation with BFSP1 and BFSP2; during homooligomerization, mediates the association of 2 dimers to form a tetramer
Site	34 – 34	Susceptible to oxidation
Modified residue	45 – 45	Phosphoserine
Modified residue	50 – 50	Deamidated glutamine; partial
Modified residue	70 – 70	N6-acetyllysine

Literature citations
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
Khan A.O.; Aldahmesh M.A.; Meyer B.;
Am. J. Ophthalmol. 144:949-952(2007)
Cited for: VARIANT CTRCT9 CYS-54; 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; High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
Javadiyan S.; Craig J.E.; Souzeau E.; Sharma S.; Lower K.M.; Mackey D.A.; Staffieri S.E.; Elder J.E.; Taranath D.; Straga T.; Black J.; Pater J.; Casey T.; Hewitt A.W.; Burdon K.P.;
G3 (Bethesda) 7:3257-3268(2017)
Cited for: VARIANT CTRCT9 CYS-54;

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.