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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07320: Variant p.Pro24Ser

Gamma-crystallin D
Gene: CRYGD
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Variant information Variant position: help 24 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 Proline (P) to Serine (S) at position 24 (P24S, p.Pro24Ser). 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 hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 CTRCT4; reduces solubility. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 174 The length of the canonical sequence.
Location on the sequence: help ITLYEDRGFQGRHYECSSDH P NLQPYLSRCNSARVDSGCWM 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                         ITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWM

Mouse                         ITFYEDRGFQGRHYECSTDHSNLQPYFSRCNSVRVDSGCWM

Rat                           ITFYEDRGFQGRHYECSTDHSNLQPYFSRCNSVRVDSGCWM

Bovine                        ITFYEDRGFQGRHYECSSDHSNLQPYLGRCNSVRVDSGCWM
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 2 – 174 Gamma-crystallin D
Domain 2 – 40 Beta/gamma crystallin 'Greek key' 1
Mutagenesis 24 – 25 PN -> TK. No effect on solubility.
Mutagenesis 24 – 24 P -> TP. No effect on solubility.
Mutagenesis 24 – 24 P -> V. Slightly reduces solubility.



Literature citations
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
Pande A.; Annunziata O.; Asherie N.; Ogun O.; Benedek G.B.; Pande J.;
Biochemistry 44:2491-2500(2005)
Cited for: MUTAGENESIS OF PRO-24; CHARACTERIZATION OF VARIANTS CTRCT4 THR-24 AND SER-24; Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.
Plotnikova O.V.; Kondrashov F.A.; Vlasov P.K.; Grigorenko A.P.; Ginter E.K.; Rogaev E.I.;
Am. J. Hum. Genet. 81:32-43(2007)
Cited for: VARIANT CTRCT4 SER-24;
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.