UniProtKB/Swiss-Prot P07320: Variant p.Pro24Thr

Gamma-crystallin D
Gene: CRYGD
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Variant information Variant position:

24 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 Proline (P) to Threonine (T) at position 24 (P24T, p.Pro24Thr). 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 medium size and hydrophobic (P) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In CTRCT4; uncertain significance; reduces solubility. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28931605 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

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:

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:

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	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; Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
Santhiya S.T.; Shyam Manohar M.; Rawlley D.; Vijayalakshmi P.; Namperumalsamy P.; Gopinath P.M.; Loester J.; Graw J.;
J. Med. Genet. 39:352-358(2002)
Cited for: VARIANTS CTRCT4 THR-24 AND 157-TRP--SER-174 DEL; VARIANT VAL-102; Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
Nandrot E.; Slingsby C.; Basak A.; Cherif-Chefchaouni M.; Benazzouz B.; Hajaji Y.; Boutayeb S.; Gribouval O.; Arbogast L.; Berraho A.; Abitbol M.; Hilal L.;
J. Med. Genet. 40:262-267(2003)
Cited for: VARIANT CTRCT4 THR-24; 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: VARIANTS CTRCT4 THR-24; PRO-45 AND 140-ARG--SER-174 DEL; 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: VARIANT CTRCT4 THR-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.