Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 252 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 FRGEMFILEKGEYPRWNTWS SSYRSDRLMSFRPIKMDAQEH
Mouse FRGEMFVLEKGEYPRWDTWT SSYRSDRLMSFRPIRMDSQEH
Rat FRGEMFVLEKGEYPRWDTWT SSYRSDRLMSFRPIRMDSQEH
Pig FRGEMFILEKGEYPRWDTWS SSYRSDRLMSFRPIRMDAQEH
Bovine FRGEMFVLEKGEYPRWDTWS SSYRSDRLMSFRPIKMDAQEH
Chicken MRGEMFILEKGEYPRWDTWS SSYRSDCFMSMRPIRMEAEDH
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 – 252 Beta-crystallin B1
99 – 143 Beta/gamma crystallin 'Greek key' 2
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer.
Wang K.J.; Wang S.; Cao N.-Q.; Yan Y.-B.; Zhu S.Q.;
Hum. Mutat. 32:E2050-E2060(2011)
Cited for: INVOLVEMENT IN CONGENITAL CATARACT-MICROCORNEA SYNDROME; VARIANT ARG-129; CHARACTERIZATION OF VARIANT ARG-129;
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.