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:
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 ITLYEDRGFQGRHYECSSDH PNLQPYLSRCNSARVDSGCWM
Mouse ITFYEDRGFQGRHYECSTDH SNLQPYFSRCNSVRVDSGCWM
Rat ITFYEDRGFQGRHYECSTDH SNLQPYFSRCNSVRVDSGCWM
Bovine ITFYEDRGFQGRHYECSSDH SNLQPYLGRCNSVRVDSGCWM
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
2 – 174 Gamma-crystallin D
2 – 40 Beta/gamma crystallin 'Greek key' 1
24 – 25 PN -> TK. Wild-type solubility.
24 – 24 P -> TP. Wild-type solubility.
24 – 24 P -> V. Slightly lowered solubility.
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.;
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: VARIANT CTRCT4 THR-24; 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;
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.