Variant position: 15 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 MGKITLYEDRGFQG RHYECSSDHPNLQPYLSRCNS
Mouse MGKITFYEDRGFQG RHYECSTDHSNLQPYFSRCNS
Rat MGKITFYEDRGFQG RHYECSTDHSNLQPYFSRCNS
Bovine MGKITFYEDRGFQG RHYECSSDHSNLQPYLGRCNS
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
1 – 1 Removed
2 – 174 Gamma-crystallin D
2 – 40 Beta/gamma crystallin 'Greek key' 1
24 – 24 P -> TP. Wild-type solubility.
24 – 24 P -> V. Slightly lowered solubility.
13 – 21
Progressive juvenile-onset punctate cataracts caused by mutation of the gamma-D-crystallin gene.
Stephan D.A.; Gillanders E.; Vanderveen D.; Freas-Lutz D.; Wistow G.; Baxevanis A.D.; Robbins C.M.; VanAuken A.; Quesenberry M.I.; Bailey-Wilson J.; Juo S.-H.H.; Trent J.M.; Smith L.; Brownstein M.J.;
Proc. Natl. Acad. Sci. U.S.A. 96:1008-1012(1999)
Cited for: VARIANT CTRCT4 CYS-15;
Molecular basis of a progressive juvenile-onset hereditary cataract.
Pande A.; Pande J.; Asherie N.; Lomakin A.; Ogun O.; King J.A.; Lubsen N.H.; Walton D.; Benedek G.B.;
Proc. Natl. Acad. Sci. U.S.A. 97:1993-1998(2000)
Cited for: SUBUNIT; CHARACTERIZATION OF VARIANT CTRCT4 CYS-15;
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