Variant position: 102 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 IPHSGSHRIRLYEREDYRGQ MIEFTEDCSCLQDRFRFNEIH
Mouse IPHAGSHRIRLYEREEYRGQ MIEFTEDCPSLQDRFHFNEIY
Rat IPHAGSHRIRLYEREDYRGQ MVEFTEDCPSLQDRFHFNEIY
Bovine IPHAGSHRLRLYEREDYRGQ MIEITEDCSSLQDRFHFNEIH
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
88 – 128 Beta/gamma crystallin 'Greek key' 3
99 – 107
Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.
Meakin S.O.; Breitman M.L.; Tsui L.-C.;
Mol. Cell. Biol. 5:1408-1414(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-102;
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;
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