Variant position: 59 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 DSGCWMLYEQPNYSGLQYFL RRGDYADHQQWMGLSDSVRSC
Mouse DSGCWMLYEQPNFTGCQYFL RRGDYPDYQQWMGFSDSVRSC
Rat DSGCWMLYEQPNFTGCQYFL RRGDYPDYQQWMGFSDSVRSC
Bovine DSGCWMIYEQPNYLGPQYFL RRGDYPDYQQWMGLNDSVRSC
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
41 – 83 Beta/gamma crystallin 'Greek key' 2
46 – 46 Susceptible to oxidation
High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.
Basak A.; Bateman O.; Slingsby C.; Pande A.; Asherie N.; Ogun O.; Benedek G.B.; Pande J.;
J. Mol. Biol. 328:1137-1147(2003)
Cited for: X-RAY CRYSTALLOGRAPHY (1.25 ANGSTROMS); X-RAY CRYSTALLOGRAPHY (1.15 ANGSTROMS) OF VARIANT HIS-59;
The gamma-crystallins and human cataracts: a puzzle made clearer.
Heon E.; Priston M.; Schorderet D.F.; Billingsley G.D.; Girard P.O.; Lubsen N.; Munier F.L.;
Am. J. Hum. Genet. 65:1261-1267(1999)
Cited for: VARIANT CTRCT4 HIS-59;
Crystal cataracts: human genetic cataract caused by protein crystallization.
Pande A.; Pande J.; Asherie N.; Lomakin A.; Ogun O.; King J.; Benedek G.B.;
Proc. Natl. Acad. Sci. U.S.A. 98:6116-6120(2001)
Cited for: CHARACTERIZATION OF VARIANTS CTRCT4 SER-37 AND HIS-59;
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.