Variant position: 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 173 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 MDVTIQHPWFK RTLGPFYPSRLFDQFFGEGLF
Rhesus macaque MDVTIQHPWFK RTLGPFYPSRLFDQFFGEGLF
Mouse MDVTIQHPWFK RALGPFYPSRLFDQFFGEGLF
Rat MDVTIQHPWFK RALGPFYPSRLFDQFFGEGLF
Pig MDIAIQHPWFK RALGPFYPSRLFDQFFGEGLF
Bovine MDIAIQHPWFK RTLGPFYPSRLFDQFFGEGLF
Rabbit MDVTIQHPWFK RTLGPFYPSRLFDQFFGEGLF
Sheep MDIAIQHPWFK RTLGPFYPSRLFDQFFGEGLF
Cat MDIAIQHPWFK RALGPFYPSRLFDQFFGEGLF
Horse MDIAIQHPWFK RALGPFYPSRLFDQFFGEGLF
Chicken MDITIQHPWFK RALGPLIPSRLFDQFFGEGLL
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 – 173 Alpha-crystallin A chain
1 – 172 Alpha-crystallin A(1-172)
1 – 168 Alpha-crystallin A(1-168)
1 – 162 Alpha-crystallin A(1-162)
1 – 63 Required for complex formation with BFSP1 and BFSP2
1 – 1 Susceptible to oxidation
18 – 18 Susceptible to oxidation
1 – 1 N-acetylmethionine
6 – 6 Deamidated glutamine; partial
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis L.M.; Tyler R.C.; Muheisen S.; Raggio V.; Salviati L.; Han D.P.; Costakos D.; Yonath H.; Hall S.; Power P.; Semina E.V.;
Hum. Genet. 132:761-770(2013)
Cited for: VARIANT CTRCT9 CYS-12;
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.